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Searching for evidence of DFNB2
Journal article   Peer reviewed

Searching for evidence of DFNB2

Lisa M Astuto, Philip M Kelley, James W Askew, Michael D Weston, Richard J H Smith, Abdulrahman F Alswaid, Mona Al-Rakaf and William J Kimberling
American journal of medical genetics, Vol.109(4), pp.291-297
05/15/2002
DOI: 10.1002/ajmg.10384
PMID: 11992483

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Abstract

Deafness is the most common form of sensory impairment in humans, affecting about 1 in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80% are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin-associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss.
 Humans Hearing Loss, Sensorineural - pathology Family Health Genotype Male Chromosomes, Human, Pair 11 - genetics Hearing Loss, Sensorineural - genetics Myosins - genetics Lod Score DNA - genetics DNA - chemistry DNA Mutational Analysis Pedigree Base Sequence Female Connexins Mutation Dyneins Microsatellite Repeats

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