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Autosomal recessive nonsyndromic hearing loss 32(DFNB32; HIIMS; DFNB105, FORMERLY)

MedGen UID:: 373370
•Concept ID:: C1837608
•: Disease or Syndrome

Synonyms:	Deafness, autosomal recessive 105; Deafness, autosomal recessive 32

Gene (location): Gene(s) directly associated with this condition or phenotype.	CDC14A (1p21.2)

Monarch Initiative:	MONDO:0012091
OMIM®:	608653

Definition

DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018). [from OMIM]

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.

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Abnormal sperm morphology

MedGen UID:: 588677
•Concept ID:: C0403824
•: Finding

A structural anomaly of sperm.

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Immotile sperm

MedGen UID:: 701339
•Concept ID:: C1278278
•: Finding

A lack of mobility of ejaculated sperm.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Abnormality of the genitourinary system
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 32

Recent clinical studies

Etiology

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.

Kakar MU, Akram M, Zubair Mehboob M, Younus M, Bilal M, Waqas A, Nazir A, Shafi M, Umair M, Ahmad S, Rafeeq MM
PLoS One 2022;17(6):e0268078. Epub 2022 Jun 16 doi: 10.1371/journal.pone.0268078. PMID: 35709191 Free PMC Article

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748 Free PMC Article

See all (2)

Diagnosis

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452 Free PMC Article

Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.

Mahfood M, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Tlili A
Genet Test Mol Biomarkers 2019 Mar;23(3):204-208. Epub 2019 Feb 13 doi: 10.1089/gtmb.2018.0264. PMID: 30758234

See all (3)

Clinical prediction guides

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Jun;84(6):484-90. Epub 2006 May 4 doi: 10.1007/s00109-005-0023-3. PMID: 16596430 Free PMC Article

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.

Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM
Am J Med Genet A 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. PMID: 15637723 Free PMC Article

See all (2)

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Autosomal recessive nonsyndromic hearing loss 32(DFNB32; HIIMS; DFNB105, FORMERLY)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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