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Pattern of connexin 26 ( GJB2 ) mutations causing sensorineural hearing impairment in Ghana
Author(s) -
Hamelmann Christoph,
Amedofu Geoffrey K.,
Albrecht Katrin,
Muntau Birgit,
Gelhaus Annette,
Brobby George W.,
Horstmann Rolf D.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1156
Subject(s) - frameshift mutation , biology , connexin , genetics , nonsense , nonsense mutation , mutation , gene , sensorineural hearing loss , hearing loss , audiology , gap junction , missense mutation , medicine , intracellular
Mutations of the connexin 26 gene ( GJB2 ) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q, A197S, I203K, and L214P, were identified, whereby I203K was based on a dinucleotide exchange and R184Q appeared to be dominant. The GJB2 variants found in Ghana tend to comprise less nonsense and frameshift mutations and more mutations located in the C‐terminal half of the molecule than the variants found in other parts of the world. Hum Mutat 18:84‐85, 2001. © 2001 Wiley‐Liss, Inc.