Deafness, Autosomal Recessive 16

Alternative Names

  • DFNB16

Associated Genes

Stereocilin
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

603720

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q15.3

Description

In the majority of hereditary deafness, hearing impairment is the only clinical feature (Non-syndromal) but it can also be associated with other clinical features (syndromal). Non-syndromal autosomal recessive deafness (NSRD) accounts for <85% of nonsyndromic sensorineural deafness. It has a very high degree of genetic heterogeneity, which is expected due to the structural and functional complexity of the inner ear. At least 35 different loci may be involved in NSRD even though it is a clinically homogenous disorder because in most cases, the hearing loss has a prelingual onset, involves all the frequencies, is severe or profound, and nonprogressive.

Molecular Genetics

This type of autosomal recessive nonsyndromic sensorineural deafness has been mapped to 15q21-q22 by linkage studies, the region was found to harbor at least one causative gene. The latter is called STRC and it encodes for the protein stereocilin. The gene is transcribed almost exclusively in the inner ear, but research findings suggest the presence of another deafness gene in the 15q21.1 region.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
603720.1.1United Arab EmiratesMaleYes Profound sensorineural hearing impairmen...NM_153700.2:c.4510delHomozygousAutosomal, RecessiveMahfood et al. 2019

Other Reports

Palestine

[See: United Arab Emirates > Campbell et al., 1997].

Syria

[See: United Arab Emirates > Campbell et al., 1997].

United Arab Emirates

Campbell et al. (1997) performed linkage analysis on families affected by NSRD. These families came originally from Syria and Palestine in addition to a UAE national family of Baluchi origin. The study resulted in mapping a recessive deafness locus, DFNB16 to the region 15q21-q22 with a maximum lod score of 6.5. Using haplotype analysis and recombination events a smaller region (12-14 cM) between the markers D15S1039 and D15S155 on chromosome 15 was identified.

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