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

被引：3

作者：

Kim, SungHee ^{[2
]}

Song, Dae Gun ^{[2
]}

Bae, Jae Woong ^{[3
]}

Choi, Soo-Young ^{[3
]}

Kim, Un-Kyung ^{[3
]}

Choi, Young Jun ^{[1
]}

Lee, Kyu Yup ^{[1
]}

Lee, Sang Heun ^{[1
]}

Lee, Jung Rae ^{[4
]}

机构：

[1] Kyungpook Natl Univ Hosp, Dept Otolaryngol, Taegu 700412, South Korea

[2] Daegu Fatima Hosp, Dept Otolaryngol, Taegu, South Korea

[3] Kyungpook Natl Univ Hosp, Dept Biol, Taegu 700412, South Korea

[4] Pohang St Maria Hosp, Dept Otolaryngol, Pohang, South Korea

来源：

CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY | 2009年 / 2卷 / 02期

关键词：

Sensorineural hearing loss; SLC26A4; protein; Human; NONSYNDROMIC HEARING-LOSS; PENDRED-SYNDROME; PDS; FREQUENCIES;

D O I：

10.3342/ceo.2009.2.2.100

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

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 heterozygoas 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.

引用

页码：100 / 102

页数：3

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