PMID: 9440775Jan 24, 1998Paper

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping

Archives of Otolaryngology--head & Neck Surgery
A ChenR J Smith

Abstract

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. To provide presymptomatic diagnosis of HHI to individuals in select families who have participated in linkage studies. 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. 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. By simple Mendelian genetics, the risk of inheriting...Continue Reading

Citations

Feb 10, 2011·ORL; Journal for Oto-rhino-laryngology and Its Related Specialties·Akeem Olawale LasisiOladapo O Olayemi
Jan 24, 2006·ORL; Journal for Oto-rhino-laryngology and Its Related Specialties·Yildirim A Bayazit, Metin Yilmaz

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