Clinical and Experimental Otorhinolaryngology (Jun 2009)

A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome

  • SungHee Kim,
  • Dae Gun Song,
  • Jae Woong Bae,
  • Soo-Young Choi,
  • Un-Kyung Kim,
  • Young Jun Choi,
  • Kyu Yup Lee,
  • Sang Heun Lee,
  • Jung Rae Lee

DOI
https://doi.org/10.3342/ceo.2009.2.2.100
Journal volume & issue
Vol. 2, no. 2
pp. 100 – 102

Abstract

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Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.

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