Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

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:...

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Veröffentlicht in:	Human mutation 2001-07, Vol.18 (1), p.84-85
Hauptverfasser:	Hamelmann, Christoph, Amedofu, Geoffrey K., Albrecht, Katrin, Muntau, Birgit, Gelhaus, Annette, Brobby, George W., Horstmann, Rolf D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Africa Child congenital deafness Connexin 26 Connexins - chemistry Connexins - genetics Cx26 gap junction protein-beta 2 Genes, Dominant - genetics Genes, Recessive - genetics Genetic Testing Genotype Ghana GJB2 Hearing Loss, Sensorineural - genetics Humans Mutation - genetics Mutation, Missense - genetics neurosensory
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