Clin Exp Otorhinolaryngol.  2009 Jun;2(2):100-102. 10.3342/ceo.2009.2.2.100.

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

• Kim S
• Song DG
• Bae JW
• Choi SY
• Kim UK
• Choi YJ
• Lee KY
• Lee SH
• Lee JR

• KMID: 2007193
• DOI: http://doi.org/10.3342/ceo.2009.2.2.100

Abstract

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.

Keyword

Sensorineural hearing loss; SLC26A4 protein; Human

MeSH Terms

Asian Continental Ancestry Group
Databases, Genetic
Deafness
Goiter
Goiter, Nodular
Hearing Loss, Sensorineural
Humans
Vestibular Aqueduct
Goiter, Nodular
Hearing Loss, Sensorineural
Vestibular Aqueduct

Figure

• 

  Fig. 1 Auditory Steady State Response in the proband showing the estimated hearing threshold.

• 

  Fig. 2 An axial non-enhanced temporal bone CT revealing the widen vestibular aqueduct (arrows).

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  Fig. 3 (A) Pedigree of family with the H723R mutation. Filled wymbol indicates affected person. The proband is marked with an arrow. (B) Direct sequencing chromatographs of the H723R mutation. Father, mother, and sister panel show the heterozygote of the H723R mutation. The proband panel shows the homozygote of the H723R mutation. Missense mutation at nucleotide 2168 in exon 19 substituted arginine for histidine at aminoacid 723.

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