title: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
abstract: 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.
authors: Bernhard Nocht Institute for Tropical Medicine, 20359 Hamburg, Germany.
authors: C
authors: C
authors: Hamelmann
authors: G K
authors: GK
authors: Amedofu
authors: K
authors: K
authors: Albrecht
authors: B
authors: B
authors: Muntau
authors: A
authors: A
authors: Gelhaus
authors: G W
authors: GW
authors: Brobby
authors: R D
authors: RD
authors: Horstmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D005869:Ghana; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26