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Disease Report for: Familial hypercholanemia

Alternative name(s)|FHCA
Mutation|3 mutations: 4kbup_human-EPHX1, IVS1_human-EPHX1, M76V_human-BAAT
OMIM: |602938, 607748

(from OMIM) Familial hypercholanemia (60748) is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Carlton et al. (2003) studied this disorder in 17 individuals in 12 families of Lancaster County Old Order Amish descent. In 6 families, affected individuals were homozygous for a missense mutation in the gene encoding tight junction protein-2 (TJP2)(not an a/b hydrolase). In 2 families, affected individuals were homozygous for an M76V mutation in BAAT. In 2 families, the affected individuals were homozygous for the TJP2 missense mutation and heterozygous for the BAAT mutation, and in 1 family affected individuals were homozygous for the BAAT mutation and heterozygous for the TJP2 mutation. Carlton et al. (2003) postulated oligogenic inheritance of familial hypercholanemia. In a patient with hypercholanemia, Zhu et al. (2003) identified compound heterozygosity for 2 mutations in the EPHX1 gene, which resulted in a significant decrease in EPHX1 promoter activity.

    Title: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
    Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA and Bull LN <2 more author(s)>
    Ref: Nat Genet, 34:91, 2003 : PubMed


    Title: Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia
    Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D
    Ref: Biochimica & Biophysica Acta, 1638:208, 2003 : PubMed


    Title: An EST and STS-based YAC contig map of human chromosome 9q22.3
    Lench NJ, Telford EA, Andersen SE, Moynihan TP, Robinson PA, Markham AF
    Ref: Genomics, 38:199, 1996 : PubMed


    Title: Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase.
    Falany CN, Johnson MR, Barnes S, Diasio RB
    Ref: Journal of Biological Chemistry, 269:19375, 1994 : PubMed


    Title: Purification and characterization of bile acid-CoA:amino acid N-acyltransferase from human liver
    Johnson MR, Barnes S, Kwakye JB, Diasio RB
    Ref: Journal of Biological Chemistry, 266:10227, 1991 : PubMed


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