Document Detail

The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
MedLine Citation:
PMID:  17322586     Owner:  NLM     Status:  MEDLINE    
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 nonsyndromic 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 723Arginine) in the PDS/SLC26A4 gene.
Mi Ae Cho; Su Jin Jeong; Sang-Mi Eom; Hyun-Young Park; Hyun-Yung Park; Young Joo Lee; Se Eun Park; So Young Park; Yumie Rhee; Eun Seok Kang; Eun Soek Kang; Chul Woo Ahn; Bong Soo Cha; Eun Jig Lee; Kyung Rae Kim; Hyun Chul Lee; Sung-Kil Lim
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Endocrine     Volume:  30     ISSN:  1355-008X     ISO Abbreviation:  Endocrine     Publication Date:  2006 Oct 
Date Detail:
Created Date:  2007-02-26     Completed Date:  2007-04-23     Revised Date:  2010-06-24    
Medline Journal Info:
Nlm Unique ID:  9434444     Medline TA:  Endocrine     Country:  United States    
Other Details:
Languages:  eng     Pagination:  237-43     Citation Subset:  IM    
Department of Internal Medicine & Endocrine Research Institute, College of Medicine, Yonsei University, Seoul, Korea.
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MeSH Terms
DNA Mutational Analysis
Goiter / congenital*,  genetics*,  ultrasonography
Hearing Loss, Sensorineural / congenital*,  genetics*
Membrane Transport Proteins / genetics*
Middle Aged
Vestibular Aqueduct / ultrasonography
Reg. No./Substance:
0/Membrane Transport Proteins; 0/SLC26A4 protein, human
Erratum In:
Endocrine. 2006 Dec;30(3):397
Note: Park, Hyun-Yung [corrected to Park, Hyun-Young]; Kang, Eun Soek [corrected to Kang, Eun Seok]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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