Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Human Mutation
Pia HöglundJ Kere

Abstract

An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down-regulated in adenoma (DRA) gene. A three base pair deletion resulting in the loss of an amino acid valine (V317del) in the predicted CLD/DRA protein was shown to be responsible for all CLD cases in a Finnish founder population. Two additional mutations, H124L and 344delT, were found in Polish CLD patients. Here, we screened for additional mutations in a set of 14 CLD families of Polish, Swedish, North American, and Finnish origin using primers that allowed mutation searches directly from genomic DNA samples. We found eight novel mutations in the CLD/DRA gene. The mutations included two transversions, one transition, one insertion, and four small deletions. Of 11 sequence alterations detected so far, nine lie clustered in three short segments that are 49 bp, 39 bp, and 65 bp in size, respectively. These short segments span only 6.7% of the total cDNA length, suggesting functional importance or mutation-prone DNA regions of the corresponding CLD/DRA protein domains.

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Citations

Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Oct 15, 1998·Proceedings of the National Academy of Sciences of the United States of America·A de la Chapelle, F A Wright
Nov 24, 2011·Genetic Testing and Molecular Biomarkers·Imen Ben-RebehBassam R Ali
Dec 26, 2001·Human Mutation·Kati Sipilä, Pertti Aula
Sep 10, 2005·Molecular and Cellular Probes·Anna RautanenJuha Kere
Nov 21, 2002·Human Mutation·Siru MäkeläPia Höglund
Jun 23, 2011·Journal of Pediatric Gastroenterology and Nutrition·Silvia LechnerAndreas R Janecke
Jan 1, 2013·European Journal of Pediatrics·Jeana HongJeong Wan Seo
Oct 10, 2002·American Journal of Physiology. Cell Physiology·Deborah SterlingJoseph R Casey
Nov 21, 2002·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Deborah Sterling, Joseph R Casey
Mar 11, 2003·Human Genetics·Reijo Norio
Jan 14, 1999·The American Journal of Physiology·J KereP Höglund
Apr 15, 2018·Gastroenterology·Jay R ThiagarajahUNKNOWN PediCODE Consortium

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