TY - JOUR
T1 - Mutation Screening of the GJA7 (Cx45) Gene in a Large International Series of Probands with Nonsyndromic Hearing Impairment
AU - Ouyang, Xiao Mei
AU - Yan, Denise
AU - Aslan, Idil
AU - Du, Li Lin
AU - Tekin, Mustafa
AU - Liu, Xue Zhong
N1 - Copyright:
Copyright 2011 Elsevier B.V., All rights reserved.
PY - 2011/5/1
Y1 - 2011/5/1
N2 - Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss. Cx45 is another gap junction protein, coded by the GJA7 gene. To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China. Three nucleotide variants not affecting the amino acid sequence, c.213C>T, c.906C>T, and c.912G>T, and one missense change, c.889C>A (p.D297N), were found. None of the identified changes appeared to be pathogenic. Our data suggest that GJA7 alterations have no or low genetic relevance in nonsyndromic hearing loss in these populations.
AB - Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss. Cx45 is another gap junction protein, coded by the GJA7 gene. To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China. Three nucleotide variants not affecting the amino acid sequence, c.213C>T, c.906C>T, and c.912G>T, and one missense change, c.889C>A (p.D297N), were found. None of the identified changes appeared to be pathogenic. Our data suggest that GJA7 alterations have no or low genetic relevance in nonsyndromic hearing loss in these populations.
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U2 - 10.1089/gtmb.2010.0085
DO - 10.1089/gtmb.2010.0085
M3 - Article
C2 - 21254920
AN - SCOPUS:79956142478
VL - 15
SP - 333
EP - 336
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 5
ER -