Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping

Achih H Chen; Robert F Mueller; Sai D Prasad; John H Greinwald; Jose Manaligod; Ann C Muilenburg; Kristien Verhoeven; Guy Van Camp; Richard J. H Smith

doi:10.1001/archotol.124.1.20

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Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping

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Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping

Achih H Chen, Robert F Mueller, Sai D Prasad, John H Greinwald, Jose Manaligod, Ann C Muilenburg, Kristien Verhoeven, Guy Van Camp and Richard J. H Smith

Archives of otolaryngology--head & neck surgery, Vol.124(1), pp.20-24

01/01/1998

DOI: 10.1001/archotol.124.1.20

PMID: 9440775

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Abstract

BACKGROUND Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). It is genetically heterogeneous, and although the exact number of genes is not known, 38 loci have been identified. By cloning the relevant genes and studying the function of the encoded proteins at the molecular level, it may be possible to impact the habitation of persons at risk for HHI. Currently, for select families, presymptomatic diagnosis of NSHL by genotyping is possible. OBJECTIVE To provide presymptomatic diagnosis of HHI to individuals in select families who have participated in linkage studies. DESIGN In 2 large families with autosomal dominant HHI, genes for NSHL were mapped to chromosomes 6 (DFNA10) and 19 (DFNA4). In each family, the phenotype is one of progressive sensorineural hearing loss that begins in the individual's mid-30s and progresses to a severe-to-profound loss requiring amplification. Presymptomatic diagnosis was requested by, and provided to, 19 at-risk persons in these kindreds. RESULTS By reconstructing haplotypes through the use of short tandem repeat polymorphisms tightly linked to the disease gene, risk calculations and genetic counseling were provided to these persons. CONCLUSIONS By simple Mendelian genetics, the risk of inheriting a fully penetrant autosomal dominant NSHL gene from a single affected parent is 50% for each offspring. However, by reconstructing haplotypes in families in which an HHI gene has been localized, this risk can be changed substantially.Arch Otolaryngol Head Neck Surg. 1998;124:20-24-->

Details

Title: Subtitle: Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping
Creators: Achih H Chen
Robert F Mueller
Sai D Prasad
John H Greinwald
Jose Manaligod
Ann C Muilenburg
Kristien Verhoeven
Guy Van Camp
Richard J. H Smith
Resource Type: Journal article
Publication Details: Archives of otolaryngology--head & neck surgery, Vol.124(1), pp.20-24
DOI: 10.1001/archotol.124.1.20
PMID: 9440775
NLM abbreviation: Arch Otolaryngol Head Neck Surg
ISSN: 0886-4470
eISSN: 1538-361X
Publisher: American Medical Association
Language: English
Date published: 01/01/1998
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007192902771

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