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Deafness-infertility syndrome(DIS)

MedGen UID:: 370197
•Concept ID:: C1970187
•: Disease or Syndrome

Synonym:	Deafness and male infertility
SNOMED CT:	Sensorineural deafness and male infertility (700489002); Deafness infertility syndrome (700489002); Chromosome 15q15.3 deletion syndrome (700489002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	CATSPER2 (15q15.3); STRC (15q15.3)

Monarch Initiative:	MONDO:0012621
OMIM®:	611102
Orphanet:	ORPHA94064

Disease characteristics

Excerpted from the GeneReview: STRC-Related Autosomal Recessive Hearing Loss

STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss. Males with biallelic contiguous gene deletions involving STRC and CATSPER2 are at risk for CATSPER2-related male infertility due to morphologic sperm abnormalities that affect sperm motility. In contrast, females with contiguous gene deletions do not have related fertility issues. [from GeneReviews]

Authors:
Shelby Redfield | A Eliot Shearer view full author information

Additional descriptions

From OMIM
Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by Vona et al., 2015). http://www.omim.org/entry/611102

From MedlinePlus Genetics
Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies. https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome

Clinical features

From HPO

Male infertility

MedGen UID:: 5796
•Concept ID:: C0021364
•: Disease or Syndrome

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

See: Feature record | Search on this feature

Abnormal spermatogenesis

MedGen UID:: 488909
•Concept ID:: C0520933
•: Finding

Incomplete maturation or aberrant formation of the male gametes.

See: Feature record | Search on this feature

Abnormal sperm tail morphology

MedGen UID:: 868305
•Concept ID:: C4022699
•: Finding

A structural abnormality of the sperm tail.

See: Feature record | Search on this feature

Abnormal sperm head morphology

MedGen UID:: 868308
•Concept ID:: C4022702
•: Finding

A structural abnormality of the sperm head.

See: Feature record | Search on this feature

Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

See: Feature record | Search on this feature

Bilateral sensorineural hearing impairment

MedGen UID:: 96788
•Concept ID:: C0452138
•: Disease or Syndrome

A bilateral form of sensorineural hearing impairment.

See: Feature record | Search on this feature

Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

See: Feature record | Search on this feature

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Abnormality of the genitourinary system
Ear malformation
- Abnormal vestibular function
- Bilateral sensorineural hearing impairment

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeafness-infertility syndrome

Male infertility due to sperm motility disorder
- Deafness-infertility syndrome

Follow this link to review classifications for Deafness-infertility syndrome in Orphanet.

Recent clinical studies

Etiology

Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ
J Med Genet 2007 Apr;44(4):233-40. Epub 2006 Nov 10 doi: 10.1136/jmg.2006.045765. PMID: 17098888 Free PMC Article

See all (2)

Diagnosis

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H
Clin Chem 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. PMID: 37022747

Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

Kim BJ, Oh DY, Han JH, Oh J, Kim MY, Park HR, Seok J, Cho SD, Lee SY, Kim Y, Carandang M, Kwon IS, Lee S, Jang JH, Choung YH, Lee S, Lee H, Hwang SM, Choi BY
Genet Med 2020 Jun;22(6):1119-1128. Epub 2020 Mar 17 doi: 10.1038/s41436-020-0774-9. PMID: 32203226

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646 Free PMC Article

See all (4)