Send to

Choose Destination
See comment in PubMed Commons below
Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1633-6. doi: 10.1016/j.ijporl.2012.07.035. Epub 2012 Aug 18.

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

Author information

  • 1Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-Sen University, Guangzhou 510080, PR China.



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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center