Mutations of MYO6 are associated with recessive deafness, DFNB37
Mutations of MYO6 are associated with recessive deafness, DFNB37
复制标题
DOI：
10.1086/375122
复制
发表时间：
2003-05-01
影响因子：
9.8
通讯作者：
Wilcox, ER
中科院分区：
文献类型：
--
作者：
Ahmed, ZM;Morell, RJ;Wilcox, ER
三个巴基斯坦家庭中严重的先天性耳聋与染色体 6q13 上的标记的共分离定义了一个新的隐性耳聋基因座 DFNB37。单倍型分析揭示了一个 6-cM 连锁区，两侧为标记 D6S1282 和 D6S1031，其中包括编码非常规肌球蛋白 VI 的基因。在隐性遗传性耳聋家族 DFNB37 中，我们对 MYO6 的序列分析揭示了移码突变 (36-37insT)、无义突变 (R1166X) 和错义突变 (E216V)。这些突变以及之前发表的与常染色体显性进行性听力损失 (DFNA22) 相关的错义等位基因，提供了一个等位基因谱，可探讨肌球蛋白 VI 功能障碍与由此产生的表型之间的关系。
Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.