Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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DOI：
10.1002/humu.9043
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发表时间：
2002-07-01
期刊：
影响因子：
3.9
通讯作者：
Estivill, X
中科院分区：
文献类型：
--
作者：
Lopez-Bigas, N;Melchionda, S;Estivill, X
Pendred综合征是一种常染色体隐性遗传病，以先天性感音神经性听力损失合并甲状腺肿为特征。这种疾病可能占遗传性耳聋病例的10%。该疾病基因（PDS/SLC26A4）已被定位到染色体7q22-q31上，并编码一种氯-碘转运蛋白。该基因突变也是导致非综合征型常染色体隐性听力障碍（DFNB4）的一个原因。我们分析了西班牙和意大利家族的PDS/SLC26A4基因，发现了5个新的突变（X781W, T132I, IVS2-2A>G， Y556H和406del5）。
Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5).