Article
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
Human molecular genetics - 1 Dec 2001
Liu X Z, Xia X J, Adams J, Chen Z Y, Welch K O, Tekin M, Ouyang X M, Kristiansen A, Pandya A, Balkany T, Arnos K S, Nance W E
Abstract excerpt
Mutations in four members of the connexin gene family have been shown to underlie distinct genetic forms of deafness, including GJB2 [connexin 26 (Cx26)], GJB3 (Cx31), GJB6 (Cx30) and GJB1 (Cx32). We have found that alterations in a fifth member of this family, GJA1 (Cx43), appear to cause a common form of deafness in African Americans. We identified two different GJA1 mutations in four of 26 African American...
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