Document Detail


A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online.
MedLine Citation:
PMID:  10671059     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital chloride diarrhea (CLD) is an autosomal recessive disease characterized by excretion of watery stool with a high chloride content. Pathogenesis of CLD is a deficient absorption of chloride in exchange for bicarbonate in the ileum and the colon. In 1996, it was reported that 36 patients with CLD had mutations in the down-regulated in adenoma (DRA) gene; 32 Finnish patients had a three base deletion (951delGGT), 2 Polish patients had a one base mutation (371AtoT) and 2 Polish patients had a one base deletion (344delT). In this study we analyzed the DRA gene in a Japanese boy patient with CLD and in members of his family. The patient was found to have a two base deletion (TT) at nucleotide 1526-1527 within codon 509 which results in a frameshift leading to a permature stopping at codon 517. The patient was homozygous for the deletion, his parents and brother were heterozygous, and his sister was normal. This is the first case of CLD identified to carry a mutation of the DRA gene in Asia.
Authors:
Y Etani; S Mushiake; H Tajiri; K Miki; K Kozaiwa; A Sawada; K Tada; K Ozono; S Okada
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human mutation     Volume:  12     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1998  
Date Detail:
Created Date:  2000-02-07     Completed Date:  2000-02-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  362     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Osaka University, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adenoma / genetics*,  metabolism
Antiporters*
Carrier Proteins / biosynthesis,  genetics*
Chlorides / metabolism*
Colonic Neoplasms / genetics*,  metabolism
Diarrhea / genetics*,  metabolism
Frameshift Mutation / genetics*
Humans
Male
Membrane Proteins / biosynthesis,  genetics*
Chemical
Reg. No./Substance:
0/Antiporters; 0/Carrier Proteins; 0/Chlorides; 0/Membrane Proteins; 0/SLC26A3 protein, human

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