Chen Kaitian, Zhou Wei, Zong Ling, Liu Min, Du Jintao, Jiang Hongyan
Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-Sen University, Guangzhou 510080, PR China.
Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1633-6. doi: 10.1016/j.ijporl.2012.07.035. Epub 2012 Aug 18.
Pendred syndrome is one of the most common hereditary determined diseases in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 gene are a major cause of Pendred syndrome. However, Pendred syndrome is quite rare in China. This investigation aims to identify genetic cause of a Chinese family with Pendred syndrome.
Clinical and molecular evaluations were conducted in a Chinese family with Pendred syndrome.
A novel SLC26A4 c.662_663insG mutation was detected in compound heterozygosity with IVS7-2A>G. No FOXI1, KCNJ10 or GJB2 pathogenic mutation was found. The novel mutation c.662_663insG (p.G221) locates in SLC26A4 gene exon 6, and cause frameshift mutation on pendrin protein transmembrane domain five.
The compound heterozygosity of the novel c.662_663insG and IVS7-2A>G mutations in the SLC26A4 gene was considered to be the cause of Pendred syndrome in the proband. This study also supplemented the mutation spectrum of Pendred syndrome.
Pendred综合征是综合征性感音神经性听力损失患者中最常见的遗传性疾病之一。SLC26A4基因突变是Pendred综合征的主要病因。然而，Pendred综合征在中国相当罕见。本研究旨在确定一个患有Pendred综合征的中国家系的遗传病因。
对一个患有Pendred综合征的中国家系进行了临床和分子评估。
检测到一个新的SLC26A4基因c.662_663insG突变，与IVS7-2A>G形成复合杂合子。未发现FOXI1、KCNJ10或GJB2致病突变。新突变c.662_663insG（p.G221）位于SLC26A4基因外显子6，导致pendrin蛋白跨膜结构域5发生移码突变。
SLC26A4基因新的c.662_663insG和IVS7-2A>G突变的复合杂合性被认为是先证者患Pendred综合征的原因。本研究也补充了Pendred综合征的突变谱。
