Novel heterozygous mutation c.662_663insG compound with IVS7-2A > G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome

Objective: 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. Methods: Clinical and molecular evaluations were conducted in a Chinese family with Pendred syndrome. Results: A novel SLC26A4 c.662_663insG mutation was detected in compound heterozygosity with IVS7-2A > G. No FOX11, 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. Conclusion: 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. (C) 2012 Elsevier Ireland Ltd. All rights reserved.