López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés M L, Gasparini P, Estivill X
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238.
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 new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).
彭德莱德综合征是一种常染色体隐性疾病，其特征为先天性感音神经性听力损失并伴有甲状腺肿。该疾病可能占遗传性耳聋病例的10%。致病基因（PDS/SLC26A4）已被定位到7号染色体的q22 - q31区域，编码一种氯 - 碘转运蛋白。该基因的突变也是非综合征性常染色体隐性听力障碍（DFNB4）的一个病因。我们分析了西班牙和意大利家族中的PDS/SLC26A4基因，检测到五个新的突变（X871M、T132I、IVS1 - 2A>G、Y556H和406del5）。
