title: A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online.
abstract: 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.affiliation: Department of Pediatrics, Osaka University, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Etani
authors.forename: S
authors.initials: S
authors.lastname: Mushiake
authors.forename: H
authors.initials: H
authors.lastname: Tajiri
authors.forename: K
authors.initials: K
authors.lastname: Miki
authors.forename: K
authors.initials: K
authors.lastname: Kozaiwa
authors.forename: A
authors.initials: A
authors.lastname: Sawada
authors.forename: K
authors.initials: K
authors.lastname: Tada
authors.forename: K
authors.initials: K
authors.lastname: Ozono
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000378:metabolism; D017920:Antiporters; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics*; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides / Q000378:metabolism*; D003110:Colonic Neoplasms / Q000235:genetics* / Q000378:metabolism; D003967:Diarrhea / Q000235:genetics* / Q000378:metabolism; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D000076988:Sulfate Transporters
chemical_list: D017920:Antiporters; D002352:Carrier Proteins; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; D008565:Membrane Proteins; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters