Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
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DFNB1 常染色体隐性遗传非综合征性神经感觉性耳聋与复合杂合 GJB2（连接蛋白 26）基因型 M34T/167delT 无关。
DOI：
10.1086/303045
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发表时间：
2000
影响因子：
9.8
通讯作者：
Friedman,TB
中科院分区：
文献类型：
--
作者：
Griffith,AJ;Chowdhry,AA;Kurima,K;Hood,LJ;Keats,B;Berlin,CI;Morell,RJ;Friedman,TB
Previous studies of the gap-junction β-2 subunit geneGJB2(connexin 26) have suggested that the 101T→C (M34T) nucleotide substitution may be a mutant allele responsible for recessive deafnessDFNB1.This hypothesis was consistent with observations of negligible intercellular coupling and gap-junction assembly of the M34T allele product expressed inXenopusoocytes and HeLa cells. The results of our current study of a family cosegregating the 167delT allele ofGJB2and severeDFNB1deafness demonstrate that this phenotype did not cosegregate with the compound-heterozygous genotype M34T/167delT. Since 167delT is a null allele ofGJB2,this result indicates that the in vivo activity of a single M34T allele is not sufficiently reduced to cause the typical deafness phenotype associated withDFNB1.This observation raises the possibility that otherGJB2missense substitutions may not be recessive mutations that cause severe deafness and emphasizes the importance of observing cosegregation with deafness in large families to confirm that these missense alleles are mutantDFNB1alleles.
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