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

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)20-24
Number of pages5
JournalArchives of Otolaryngology - Head and Neck Surgery
Volume124
Issue number1
DOIs
StatePublished - Jan 1998

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Hearing Loss
Genes
Haplotypes
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 6
Sensorineural Hearing Loss
Genetic Counseling
Microsatellite Repeats
Nonsyndromic Deafness
Organism Cloning
Phenotype
Proteins

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

Cite this

Chen, A. H., Mueller, R. F., Prasad, S. D., Greinwald, J. H., Manaligod, J., Muilenburg, A. C., ... Smith, R. J. H. (1998). Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. Archives of Otolaryngology - Head and Neck Surgery, 124(1), 20-24. https://doi.org/10.1001/archotol.124.1.20

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. / Chen, Achih H.; Mueller, Robert F.; Prasad, Sai D.; Greinwald, John H.; Manaligod, Jose; Muilenburg, Ann C.; Verhoeven, Kristien; Van Camp, Guy; Smith, Richard J.H.

In: Archives of Otolaryngology - Head and Neck Surgery, Vol. 124, No. 1, 01.1998, p. 20-24.

Research output: Contribution to journalArticle

Chen, AH, Mueller, RF, Prasad, SD, Greinwald, JH, Manaligod, J, Muilenburg, AC, Verhoeven, K, Van Camp, G & Smith, RJH 1998, 'Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping', Archives of Otolaryngology - Head and Neck Surgery, vol. 124, no. 1, pp. 20-24. https://doi.org/10.1001/archotol.124.1.20
Chen AH, Mueller RF, Prasad SD, Greinwald JH, Manaligod J, Muilenburg AC et al. Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. Archives of Otolaryngology - Head and Neck Surgery. 1998 Jan;124(1):20-24. https://doi.org/10.1001/archotol.124.1.20
Chen, Achih H. ; Mueller, Robert F. ; Prasad, Sai D. ; Greinwald, John H. ; Manaligod, Jose ; Muilenburg, Ann C. ; Verhoeven, Kristien ; Van Camp, Guy ; Smith, Richard J.H. / Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. In: Archives of Otolaryngology - Head and Neck Surgery. 1998 ; Vol. 124, No. 1. pp. 20-24.
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