Goal 1.

Describe the audiometric and clinical aspects of genetic hearing loss.

Goal 2.

Review the causes of genetic hearing loss.

Goal 3.

Review the differential diagnosis of genetic hearing loss.

Goal 4.

Explain the evaluation strategy to identify the genetic cause of hearing loss in a proband.

Goal 5.

Review the management of genetic hearing loss.

Goal 6.

Inform the genetic counseling of an individual with genetic hearing loss and their family members.

Nonsyndromic Hearing Loss

As of this writing, more than 125 genes are associated with nonsyndromic hearing loss (a regularly updated, comprehensive list of identified nonsyndromic hearing loss genes is available at the Hereditary Hearing Loss Homepage).

Approximately 70% of prelingual genetic hearing loss is nonsyndromic (see Figure 1) [Smith et al 2005, Sheffield & Smith 2019] (full text). In most individuals with nonsyndromic genetic hearing loss (80%), hearing loss is associated with biallelic pathogenic variants and inherited in an autosomal recessive manner. Nonsyndromic hearing loss may also be inherited in an autosomal dominant manner (19%) or, rarely, associated with mitochondrial or X-linked inheritance (<1%). Although comparable data are not available for postlingual nonsyndromic genetic hearing loss, autosomal dominant inheritance is most common.

Note: Nonsyndromic hearing impairment may be referred to by the gene involved (e.g., OTOF-related deafness) or by the genetic locus (e.g., DFNB9). Nonsyndromic deafness loci are designated DFN (for DeaFNess) and further classified by mode of inheritance (DFNA: autosomal dominant; DFNB: autosomal recessive; DFNX: X-linked) and a number indicating the numeric locus assigned in the course of gene mapping.

Syndromic Hearing Loss

At the time of this writing, Online Mendelian Inheritance in Man (OMIM) lists 665 entries for syndromic forms of sensorineural hearing loss (SNHL). See Table 6a for select common causes of autosomal dominant syndromic hearing loss. See Table 6b for select common causes of autosomal recessive syndromic hearing loss. See Table 6c for select common causes of X-linked syndromic hearing loss.

Syndromic hearing loss accounts for about 20% of prelingual genetic hearing loss. The contribution of syndromic hearing loss to later-onset hearing loss is an active focus of research but is not currently known.

Identification of Children with Hearing Loss

Newborns. Universal newborn hearing screening (NBHS) using physiologic screening (either otoacoustic emissions [OAE] or automated ABR [AABR]), required by law or rule in all 50 states in the United States, is performed on >98% of children in the US typically within days after birth (see CDC Annual Data). Universal NBHS in the US identifies about 6,000 children with hearing loss each year; note that NBHS, which is designed to detect moderate-to-profound hearing loss, may miss infants with mild hearing loss.

• First, abnormal NBHS results must be followed by confirmatory audiometric testing, typically diagnostic auditory brain stem response (ABR).
• The next step is typically medical evaluation by an otolaryngologist, often the first point of contact for children with newly diagnosed hearing loss. The otolaryngologist will perform an evaluation to determine cause of hearing loss by differentiating between non-permanent causes like otitis media (fluid in the middle ear), outer and middle ear abnormalities causing conductive hearing loss, and sensorineural hearing loss. The examination will evaluate for syndromic features. The otolaryngologist will consider history, physical examination, audiometric testing, and frequently imaging studies or genetic tests to determine the underlying diagnosis.
• A genetic cause is identified in up to 60% of children with congenital bilateral severe-to-profound sensorineural hearing loss (SNHL) [Downie et al 2020, Corriols-Noval et al 2022, Seligman et al 2022]. For older children and adults, the rates of genetic diagnosis are ~40% and ~20%, respectively [Sloan-Heggen et al 2016, Corriols-Noval et al 2022, Seligman et al 2022].

Other children referred for complete diagnostic assessment regardless of NBHS result often include:

• Children considered to have a high chance of hearing loss for reasons such as a family history of hearing loss, a syndrome associated with hearing loss (e.g., trisomy 21 or cleft lip and palate), or exposure to specific environmental risk factors (e.g., care in a neonatal intensive care unit [NICU], exposure to aminoglycoside antibiotics);
• School-age children who typically have milder hearing loss that was not detected on NBHS and are often identified following: (1) parental concern regarding hearing; (2) delayed speech or language development; and/or (3) hearing screening as part of a well-child examination or school program [Wake et al 2006].

Identification of Adults with Hearing Loss

Adults with hearing loss – at the time of presentation – typically are symptomatic with either diminished hearing or tinnitus (ringing in the ears), which may indicate hearing loss.

Initial Diagnostic Evaluation

Initial diagnostic evaluation of any individual with hearing loss (see Figure 2) should include genetic testing (see Molecular Genetic Testing) as well as the following:

Figure 2.

Diagnostic algorithm for presumed hereditary nonsyndromic sensorineural hearing loss

• Hearing loss history with a focus on onset, severity, frequency, and laterality (See Audiometric and Clinical Characteristics of Hearing Loss.)
• Family history of hearing loss, particularly early-onset hearing loss, and presence of features suggestive of the syndromes included in Tables 6a, 6b, and 6c (select common syndromes with hearing loss organized by mode of inheritance)
• Physical examination with particular attention to abnormalities of the auricle including shape and size (e.g., CHD7 disorder), pits or tags (e.g., branchiootorenal spectrum disorder), thyroid function (e.g., Pendred syndrome), and pigmentary abnormalities (e.g., Waardenburg syndrome type 1)
• Audiometric testing. Hearing status can be determined at any age and is tailored to the individual's ability to participate (see Audiometric and Clinical Characteristics of Hearing Loss).
• Evaluation of vestibular function is indicated because about 50% of hearing loss is associated with peripheral vestibular dysfunction. The finding of vestibular dysfunction may guide physical therapy, particularly in children with delayed motor milestones.
• Consideration of imaging (CT and/or MRI) if hearing loss is unilateral or asymmetric and/or sudden onset.
• Other ancillary testing/evaluation. Electrocardiogram (EKG) is often performed in children with severe-to-profound hearing loss to evaluate for prolonged QT interval, which may be life-threatening. An ophthalmology evaluation may be recommended, as individuals with hearing loss may depend more on vision for sensory input, as well as to evaluate for retinitis pigmentosa.

Timing and order of diagnostic evaluation is individual specific and depends on the age of the individual and the anticipated habilitation options. For instance, a child with severe-to-profound SNHL will typically require imaging (CT or MRI) prior to consideration of cochlear implantation. In clinical practice, the diagnostic evaluation is often performed simultaneously with molecular genetic testing given the turnaround time (1-3 months) for genetic testing.

Molecular Genetic Testing

Molecular genetic testing is the standard of care in evaluation of individuals with hearing loss. See Liming et al [2016] (full text) and Li et al [2022] (full text).

The diagnosis of a specific genetic cause of hearing loss is established in a proband with suggestive findings and pathogenic (or likely pathogenic) variant(s) in the causative gene identified by molecular genetic testing.

Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include any likely pathogenic variants. (2) The identification of variant(s) of uncertain significance cannot be used to confirm or rule out the diagnosis.

Recommended molecular genetic testing approaches include use of a multigene hearing loss panel and/or genomic testing.

Note: Single-gene testing (sequence analysis of a given gene, followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended. Isolated chromosomal microarray testing in an individual with apparent nonsyndromic hearing loss also has a low diagnostic yield.

• A multigene hearing loss panel can often identify the cause of genetic hearing loss while limiting identification of variants of uncertain significance and pathogenic variants in genes that are irrelevant to the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome or genome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
  For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
• Genomic testing does not require the clinician to determine which gene is likely involved. Exome sequencing is most commonly used. Genome sequencing is also increasingly being used in the clinical setting as the cost of testing decreases; diagnostic yield is higher, as noncoding regions are interrogated for pathogenic regulatory variants.
  For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Multidisciplinary Supportive Treatment of Hearing Loss

Children. Multidisciplinary supportive treatment recommended for hearing loss includes an otolaryngologist, an audiologist experienced in the assessment of hearing loss in children, a speech-language pathologist, a clinical geneticist, a genetic counselor, and a pediatrician. In some instances, other specialists such a neuropsychologist and/or an educator of the Deaf may be required. If a syndromic diagnosis is made, then clinicians with expertise in other areas may be required (e.g., an ophthalmologist for a child diagnosed with Usher syndrome).

Adults. Management of hearing loss in adults typically focuses on continued integration into a hearing society primarily by use of verbal communication and often other abilities, such as use of a telephone and enjoyment of music. Hearing loss in older adults is associated with increased risk of dementia [Thomson et al 2017]. Improved quality of life is possible with early treatment with hearing aids or cochlear implants [Andries et al 2021].

Targeted Medical Therapy

Specific medical therapy is available for select disorders (see Table 7).

Surveillance

Regular follow up is recommended for all individuals with genetic hearing loss in order to:

• Monitor individuals with a genetic disorder known to be associated with systemic involvement for emergence of multisystem manifestations;
• Perform sequential audiologic examinations that:
  • Document the stability or progression of the hearing loss;
  • Are tailored to the genetic diagnosis and expected prognosis for hearing loss (see Table 8);
  • Identify and treat superimposed acquired hearing loss, such as otitis media.

Agents/Circumstances to Avoid

Noise exposure is a well-recognized environmental cause of hearing loss. Since this risk can be minimized by avoidance, persons with documented hearing loss should be counseled appropriately and repeated overexposure to loud noises should be avoided. There is no established "safe" noise level, but the US Occupational Safety and Health Administration (OSHA) and National Institute for Occupational Safety and Health (NIOSH) have identified a permissible noise exposure limit of 85 dB over an eight-hour workday.

One of the primary sources of loud noise exposure in our environment is sound from headphones and earbuds. An 85-dB limit on earbuds and headphones may provide a reasonable way to reduce loud noise exposure. The headphone safety feature built into most smartphones can be set to limit noise level.

Headphone/earbud safety features can be found in the phone settings menu:

• In iPhones, under Settings > Sounds & Haptics > Headphone Safety
• In Android phones, under Settings > Sounds & Vibrations > Volume > Media Volume Limit

Also see these general resources on noise reduction:

• 6 Simple Ways To Check If Your Headphones Are Too Loud
• How Do I Prevent Hearing Loss from Loud Noise?

For genetic disorders with specific agents/circumstances to avoid, see Table 9.

Mode of Inheritance

Genetic hearing loss may be transmitted in an autosomal dominant, autosomal recessive, or X-linked manner or by maternal inheritance.

If an individual has a specific genetic syndrome associated with hearing loss (e.g., Waardenburg syndrome type I, branchiootorenal spectrum disorder, or Usher syndrome type I), counseling for that condition is indicated (see Tables 6a, 6b, and 6c).

Autosomal Recessive Nonsyndromic Hearing Loss – Risk to Family Members

See Table 3. Autosomal Recessive Nonsyndromic Hearing Loss: Distinctive Features Associated with Selected Genes.

Parents of a proband

• The parents of an individual with autosomal recessive hearing loss are presumed to be heterozygous for a hearing loss-related pathogenic variant.
• If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of the proband to confirm that both parents are heterozygous for a hearing loss-related pathogenic variant and to allow reliable recurrence assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Individuals who are heterozygous for a pathogenic variant associated with autosomal recessive hearing loss do not have an increased chance of genetic hearing loss.

Sibs of a proband

• If both parents are known to be heterozygous for an autosomal recessive hearing loss-related pathogenic variant, each sib of the proband has at conception a 25% chance of having hearing loss, a 50% chance of having no hearing loss and being a carrier, and a 25% chance of having no hearing loss and not being a carrier.
• Individuals who are heterozygous for a pathogenic variant associated with autosomal recessive hearing loss do not have an increased chance of genetic hearing loss.
• Depending on the specific diagnosis, clinical severity and phenotype may differ between sibs with the same biallelic pathogenic variants; thus, age of onset and/or progression of hearing loss may not be predictable. Note: One exception is GJB2-related hearing loss; studies have shown that it is possible to predict phenotype based on GJB2 genotype (see GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss).

Offspring of a proband. The offspring of an individual with autosomal recessive hearing loss are obligate heterozygotes (carriers of a hearing loss-related pathogenic variant).

Other family members. For each sib of the proband's parents, the probability of being a carrier of a hearing loss-related pathogenic variant is 50%.

Carrier detection. Carrier testing for relatives who may have a hearing loss-related pathogenic variant requires prior identification of the pathogenic variants in the family.

Autosomal Dominant Nonsyndromic Hearing Loss – Risk to Family Members

See Table 4. Autosomal Dominant Nonsyndromic Hearing Loss: Distinctive Features Associated with Selected Genes.

Parents of a proband

• Most individuals with autosomal dominant hearing loss have a parent with hearing loss.
• Rarely, an individual with hearing loss has hearing loss as the result of a de novo pathogenic variant. The proportion of individuals with hearing loss caused by a de novo pathogenic variant varies depending on the gene involved. In a recent study, approximately 2% of autosomal dominant nonsyndromic hearing loss could be attributed to de novo pathogenic variants [Klimara et al 2022].
• If a molecular diagnosis has been established in the proband and the proband appears to be the only family member with hearing loss, targeted molecular genetic testing for the pathogenic variant identified in the proband is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence counseling.
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with germline (or somatic and germline) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only.
• The family history of some individuals with autosomal dominant hearing loss may appear to be negative because of unrecognized hearing loss in a family member who is hard of hearing or reduced penetrance / variable expressivity in a heterozygous parent. Therefore, an apparently negative family history cannot be confirmed without appropriate clinical evaluation of the parents and/or molecular genetic testing (to establish that neither parent is heterozygous for the pathogenic variant identified in the proband).

Sibs of a proband. The likelihood of hearing loss in sibs depends on the genetic status of the proband's parents:

• If one of the proband's parents has the pathogenic variant identified in the proband, sibs have a 50% chance of inheriting the pathogenic variant and having hearing loss.
• If the proband has a known autosomal dominant hearing loss-related pathogenic variant that cannot be detected in the leukocyte DNA of either parent, the likelihood of recurrence in sibs is estimated to be 1% because of the theoretic possibility of parental germline mosaicism [Rahbari et al 2016].
• Depending on the specific diagnosis, clinical severity and phenotype may differ between sibs with the same pathogenic variant; thus, age of onset and/or progression cannot be reliably predicted.

Offspring of a proband. Individuals with autosomal dominant hearing loss have a 50% chance of transmitting the pathogenic variant to each child.

Other family members. If a parent has the pathogenic variant identified in the proband, the parent's family members may also have the pathogenic variant.

X-Linked Nonsyndromic Hearing Loss – Risk to Family Members

See Table 5. X-Linked Nonsyndromic Hearing Loss: Distinctive Features Associated with Selected Genes.

Note: For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care [Caughey et al 2021].

Parents of a male proband

• The father of a male proband will not be hemizygous for the X-linked hearing loss-related pathogenic variant; therefore, he does not require further evaluation/testing.
• In a family with more than one individual with X-linked hearing loss, the mother of a male with hearing loss is an obligate heterozygote. Note: If a woman has more than one child with hearing loss and no other relatives with hearing loss and if the pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline mosaicism.
• If a male is the only family member with hearing loss, the mother may be a heterozygote, the male may have a de novo pathogenic variant (in which case the mother is not a heterozygote), or the mother may have somatic/germline mosaicism.
• Targeted molecular genetic testing of the mother for the pathogenic variant identified in the proband is recommended to confirm her genetic status and to allow reliable recurrence assessment.

Parents of a female proband

• A female proband may have inherited the hearing loss-related pathogenic variant from either her mother or her father, or the variant may be de novo.
• Detailed evaluation of the parents and review of the extended family history may help distinguish probands with a de novo pathogenic variant from those with an inherited pathogenic variant. Molecular genetic testing of the mother (and possibly the father, or subsequently the father) can determine if the pathogenic variant was inherited.

Sibs of a male proband. The likelihood of hearing loss in sibs depends on the genetic status of the mother:

• If the mother of the proband has the hearing loss-related pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%.
  • Males who inherit the pathogenic variant will have hearing loss;
  • Females who inherit the variant will be heterozygotes and may or may not have hearing loss.
• If the proband is the only family member known to have hearing loss and if the pathogenic variant cannot be detected in the leukocyte DNA of either parent, the likelihood of hearing loss in sibs is presumed to be low but greater than that of the general population because of the possibility of maternal germline mosaicism.
• Depending on the specific diagnosis, clinical severity and phenotype may differ between individuals with the same pathogenic variant; thus, age of onset and/or progression may not be predictable.

Sibs of a female proband. The likelihood of hearing loss in sibs depends on the genetic status of the parents:

• If the mother of the proband has the hearing loss-related pathogenic variant, the chance of transmitting it in each pregnancy is 50%.
  • Males who inherit the pathogenic variant will have hearing loss;
  • Females who inherit the pathogenic variant will be heterozygotes and may or may not have hearing loss.
• If the father of the proband has a pathogenic variant, he will transmit it to all his daughters and none of his sons.

Offspring of a male proband. Males with X-linked hearing loss transmit the hearing loss-related pathogenic variant to all of their daughters and none of their sons.

Offspring of a female proband. Females with X-linked hearing loss have a 50% chance of transmitting the pathogenic variant to each child.

Other family members. If a parent has the pathogenic variant identified in the proband, the parent's family members may also have the pathogenic variant.

Heterozygote detection. Heterozygote testing for female relatives requires prior identification of the pathogenic variant in the family.

Mitochondrial Nonsyndromic Hearing Loss – Risk to Family Members

See Nonsyndromic Hearing Loss and Deafness, Mitochondrial for genetic counseling information about maternal inheritance.

Empiric Risk to Family Members

If a specific diagnosis cannot be established (and/or the mode of inheritance cannot be established in a person with a positive family history of deafness or hearing loss), the following empiric figures can be used for families of northern European ancestry.

The subsequent offspring of a hearing couple with one deaf child and an otherwise negative family history of deafness have an 18% empiric probability of deafness in future children [Green et al 1999].

• If the deaf child does not have GJB2-related autosomal recessive nonsyndromic hearing loss, the chance of recurrence is 14% for deafness unrelated to connexin 26 [Green et al 1999].
• If the hearing couple is consanguineous or comes from a highly consanguineous community, the subsequent offspring have close to a 25% probability of deafness because of the high likelihood of autosomal recessive inheritance.

The offspring of a deaf person and a hearing person have a 10% empiric probability of deafness [Green et al 1999].

• Most of the probability is attributed to autosomal dominant syndromic deafness.
• If both syndromic deafness and a family history of autosomal dominant inheritance can be excluded, the probability of deafness is chiefly related to pseudodominant inheritance of recessive deafness. GJB2 testing can identify much of this probability (see GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss).

The child of a nonconsanguineous deaf couple in whom autosomal dominant deafness has been excluded has an approximately 15% empiric probability of deafness [Green et al 1999].

• If both parents have GJB2-related deafness, the chance of deafness in their offspring is 100%.
• If the couple has autosomal recessive deafness known to be caused by deafness-causing variants at two different loci, the chance of deafness in their offspring is lower than that of the general population.

The child of a hearing sib of a deaf proband (presumed to have autosomal recessive nonsyndromic deafness) and a deaf person has a one in 200 (0.5%) empiric probability for deafness, or five times the general population probability.

GJB2 molecular genetic testing can clarify if the probability is higher. If the hearing sib is a carrier of a GJB2 deafness-causing variant and the hearing sib's reproductive partner has GJB2-related autosomal recessive nonsyndromic hearing loss, the chance of having a deaf child is 50%.

Related Genetic Counseling Issues

Evaluation of relatives at increased probability of genetic hearing loss. Permanent childhood hearing loss in a parent or sib increases the probability of hearing loss in other family members and warrants early complete diagnostic evaluation of hearing regardless of the family member's newborn hearing screening result.

• If a genetic etiology has been identified in the parent or sib with hearing loss, targeted testing can be pursued for the familial pathogenic variant(s) to determine if genetic hearing loss will occur in asymptomatic family members.
• In the absence of a molecular diagnosis in the parent or sib with hearing loss, periodic audiologic testing should be performed for family members with an increased chance of hearing loss.

The following points are noteworthy:

• Clear communication between individuals with hearing loss, families, and health care providers is key. D/deaf and hard of hearing (DHH) persons may use a variety of communication methods including spoken language, sign language, lip reading, and written notes. For DHH individuals and families who use sign language, a certified sign language interpreter must be used. Communication aids such as visual aids and verbal cues when changing topics can be helpful.
• It is important to ascertain and address the questions and concerns of the family/individual. DHH persons may be interested in obtaining information about the cause of their hearing loss, including information on medical, educational, and social services. Others may seek information about the chance of having children with hearing loss and information for family planning decisions.
• The use of neutral or balanced terminology can enhance the provision of services; for example: use of the term "chance" instead of "risk"; "deaf" or "hearing" instead of "affected" or "unaffected"; and "deaf" or "hard of hearing" instead of "hearing impaired." Members of the Deaf community may view deafness as a distinguishing characteristic and not as a handicap, impairment, or medical condition requiring a "treatment" or "cure," or to be "prevented." Terms such as "handicap" should be avoided.

Family planning

• The optimal time for determination of genetic status and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of the probability of hearing loss in offspring and reproductive options) to young adults who have hearing loss.

Prenatal Testing and Preimplantation Genetic Testing

Once the pathogenic variant(s) have been identified in the family, prenatal and preimplantation genetic testing for genetic hearing loss are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.

Author Notes

A Eliot Shearer, MD, PhD, is a pediatric otolaryngologist at Boston Children's Hospital and Harvard Medical School. He is actively involved in clinical research regarding individuals with pediatric hearing loss and methods for genetic diagnosis for syndromic and nonsyndromic hearing loss. He would be happy to communicate with persons who have any questions regarding diagnosis of hearing loss or other considerations. Lab website: www.hearing-genomics.org

Richard JH Smith, MD, is a pediatric otolaryngologist and human geneticist at the University of Iowa. He directs the Molecular Otolaryngology and Renal Research Laboratories (MORL), which offers comprehensive genetic testing for hearing loss. For questions about hearing loss and gene therapy for hearing loss, email ude.awoiu@lrom. Lab website: morl.lab.uiowa.edu

Amanda M Schaefer, MS, LGC, is a licensed and board-certified genetic counselor who specializes in hearing loss and deafness genetics at the University of Iowa Hospitals and Clinics. She works with the Molecular Otolaryngology and Renal Research Laboratories (MORL), which offers genetic testing for hearing loss. Amanda is actively involved in translational research studies for hearing loss including genotype-phenotype studies, genetic counseling for persons with hearing loss, and implementation of genetic evaluation for hearing loss.

Acknowledgments

Thank you to Nicole Salamy, MS, CCC-SLP, Rachel Landsman, PsyD, and Kaitlyn Fitzpatrick, AuD, from the Deaf and Hard of Hearing Program at Boston Children's Hospital for their contributions to the Communication and Identity Development section.

This work was supported in part by NIDCDs R01's DC002842, DC012049, and DC017955 to RJHS.

Author History

Glenn Edward Green, MD; University of Arizona (1999-2005)
Michael S Hildebrand, PhD (2010-present)
Amanda M Schaefer, MS, LGC (2023-present)
A Eliot Shearer (2012-present)
Richard JH Smith, MD (1999-present)
Guy Van Camp, PhD; University of Antwerp (1999-2017)

Revision History

• 28 September 2023 (aes) Revision: removed references to DFNA3; added recommendations for reducing loud noise exposure from headphones and earbuds
• 29 June 2023 (rjs) Revision: removed CIB2 from Table 6b
• 27 April 2023 (aa) Revision: removed GJB6 from Empiric Risk to Family Members
• 6 April 2023 (bp) Comprehensive update posted live
• 27 July 2017 (bp) Comprehensive update posted live
• 14 October 2010 (me) Comprehensive update posted live
• 28 October 2008 (me) Comprehensive update posted live
• 30 December 2005 (me) Comprehensive update posted live
• 3 November 2003 (me) Comprehensive update posted live
• 24 April 2001 (me) Comprehensive update posted live
• 14 February 1999 (pb) Overview posted live
• 30 October 1998 (rjs) Original overview submission [Supported in part by grants 1RO1DC02842 and 1RO1DC03544 (RJHS) and Belgian National Fonds voor Wetenschappelijk Onderzoek (GVC).]

Published Guidelines / Consensus Statements

• Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C, et al. Clinical evaluation and etiologic diagnosis of hearing loss: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1392-406. [PubMed]

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