Work

Genetic analysis of the connexin-26 M34T variant

Year: 2001

Type: article

Abstract: Editor—Existing published data cannot conclusively determine if the M34T allele of connexin-26 ( GJB2 ) is a recessive allele causing hearing loss. The recent article by Houseman et al ( J Med Genet 2001; 38 :20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss,” does not resolve this question. Houseman et al state that M34T segregates with hearing loss, although their data are inconsistent with this assertion. GJB2 genotype data were available for five sib pairs, yet only two of the sib pairs (1 and 2) showed cosegregation of M34T with hearing loss. Sib pairs 3, 4, and 5 showed discordant inheritance of M34T with hearing loss, raising the likelihood that their hearing loss was unrelated to the GJB2 genotype. Biallelic GJB2 mutations and/or polymorphisms were detected only in sib pairs 1 (M34T/M34T) and 5 (M34T/35delG) and subject SP6A (M34T/35delG). It is unknown if a trans GJB2 mutation was missed in the other … Dr Kelsell, kelsell{at}icrf.icnet.uk

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.38.7.e24

Author: Andrew J Griffith

Institutions: National Institutes of Health, National Institute on Deafness and Other Communication Disorders

Language: English

Topic: Hearing, Cochlea, Tinnitus, Genetics

Subfield: Sensory Systems

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2147699449