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

[pendred syndrome]

Pendred syndrome is one of the most common hereditary determined diseases in patients with syndromic sensorineural hearing impairment . Mutations in the SLC 26 A 4 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 SLC 26 A 4 c .662 _663 insG mutation was detected in compound heterozygosity with IVS 7 -2 A >G . No FOXI 1 , KCNJ 10 or GJB 2 pathogenic mutation was found . The novel mutation c .662 _663 insG (p .G 221 ) locates in SLC 26 A 4 gene exon 6 , and cause frameshift mutation on pendrin protein transmembrane domain five .The compound heterozygosity of the novel c .662 _663 insG and IVS 7 -2 A >G mutations in the SLC 26 A 4 gene was considered to be the cause of Pendred syndrome in the proband . This study also supplemented the mutation spectrum of Pendred syndrome .