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The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients

Authors
 Mi Ae Cho  ;  Su Jin Jeong  ;  Sang-Mi Eom  ;  Hyun-Yung Park  ;  Young Joo Lee  ;  Se Eun Park  ;  So Young Park  ;  Yumie Rhee  ;  Eun Soek Kang  ;  Chul Woo Ahn  ;  Bong Soo Cha  ;  Eun Jig Lee  ;  Kyung Rae Kim  ;  Hyun Chul Lee  ;  Sung-Kil Lim 
Citation
 ENDOCRINE, Vol.30(2) : 237-243, 2006 
Journal Title
 ENDOCRINE 
ISSN
 1355-008X 
Issue Date
2006
MeSH
Adult ; DNA Mutational Analysis ; Female ; Goiter/congenital* ; Goiter/diagnostic imaging ; Goiter/genetics* ; Hearing Loss, Sensorineural/congenital* ; Hearing Loss, Sensorineural/genetics* ; Humans ; Korea ; Male ; Membrane Transport Proteins/genetics* ; Middle Aged ; Mutation ; Pedigree ; Sulfate Transporters ; Syndrome ; Ultrasonography ; Vestibular Aqueduct/diagnostic imaging
Keywords
Pendred syndrome ; pendrin ; PDS/SLC26A4 gene
Abstract
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. More than 90 mutations in the PDS/SLC26A4 gene have been reported throughout the world. A recent study of 26 Korean patients with a relatively high frequency (65%) of a mutated PDS/SLC26A4 gene exhibited non-syndromic deafness and an enlarged vestibular aqueduct. We report two patients with characteristics of typical Pendred syndrome, a 26-yr-old female and a 61-yr-old male, who were both homozygous for a previously reported missense mutation, H723R (Histidine 723 Arginine) in the PDS/SLC26A4 gene.
Full Text
http://link.springer.com/article/10.1385%2FENDO%3A30%3A2%3A237
DOI
10.1385/ENDO:30:2:237
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Eun Seok(강은석) ORCID logo https://orcid.org/0000-0002-0364-4675
Kim, Kyung Rae(김경래)
Ahn, Chul Woo(안철우) ORCID logo https://orcid.org/0000-0003-3733-7486
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lee, Eun Jig(이은직) ORCID logo https://orcid.org/0000-0002-9876-8370
Lim, Sung Kil(임승길)
Cha, Bong Soo(차봉수) ORCID logo https://orcid.org/0000-0003-0542-2854
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/110613
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