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KMID : 1195620090020020100
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Clinical and Experimental Otorhinolaryngology
2009 Volume.2 No. 2 p.100 ~ p.102
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A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
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Kim Sung-Hee
Song Dae-Gun
Bae Jae-Woong
Choi Soo-Young
Kim Un-Kyung
Choi Young-Jun
Lee Kyu-Yup
Lee Sang-Heun
Lee Jung-Rae
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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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KEYWORD
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Sensorineural hearing loss, SLC26A4 protein, Human
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