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A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

Authors: Chagnon, P  Michaud, J  Mitchell, G  Mercier, J  Marion, JF  Drouin, E  Rasquin-Weber, A  Hudson, TJ  Richter, A 
Citation: Chagnon P, etal., Am J Hum Genet. 2002 Dec;71(6):1443-9. Epub 2002 Nov 4.
Pubmed: (View Article at PubMed) PMID:12417987
DOI: Full-text: DOI:10.1086/344580

North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Clinical and physiological investigations have not revealed the underlying cause of the disease. Currently, liver transplantation is the only effective therapy for patients with advanced disease. We previously identified the NAIC locus by homozygosity mapping to chromosome 16q22. Here we report that an exon 15 mutation in gene FLJ14728 (alias Cirhin) causes NAIC: c.1741C-->T in GenBank cDNA sequence NM_032830, found in all NAIC chromosomes, changes the conserved arginine 565 codon to a tryptophan, altering the predicted secondary structure of the protein. Cirhin is preferentially expressed in embryonic liver, is predicted to localize to mitochondria, and contains WD repeats, which are structural motifs frequently associated with molecular scaffolds.


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RGD Object Information
RGD ID: 1600653
Created: 2007-03-22
Species: All species
Last Modified: 2007-03-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.