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Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency

Holzinger, A, Maier, EM, Buck, C, Mayerhofer, PU, Kappler, M, Haworth, JC, Moroz, SP, Hadorn, HB, Sadler, JE and Roscher, AA (2002) Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency Am J Hum Genet, 70. pp. 20-25.

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Enteropeptidase (enterokinase [E.C.]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, in turn, releases active digestive enzymes from their inactive pancreatic precursors. Congenital enteropeptidase deficiency is a rare recessively inherited disorder leading, in affected infants, to severe failure to thrive. The genomic structure of the proenteropeptidase gene (25 exons, total gene size 88 kb) was characterized in order to perform DNA sequencing in three clinically and biochemically proved patients with congenital enteropeptidase deficiency who were from two families. We found compound heterozygosity for nonsense mutations (S712X/R857X) in two affected siblings and found compound heterozygosity for a nonsense mutation (Q261X) and a frameshift mutation (FsQ902) in the third patient. In accordance with the biochemical findings, all four defective alleles identified are predicted null alleles leading to a gene product not containing the active site of the enzyme. These data provide first evidence that proenteropeptidase-gene mutations are the primary cause of congenital enteropeptidase deficiency.

Item Type: Article
Divisions : Surrey research (other units)
Authors :
Holzinger, A
Maier, EM
Buck, C
Kappler, M
Haworth, JC
Moroz, SP
Hadorn, HB
Sadler, JE
Roscher, AA
Date : 2002
DOI : 10.1086/338456
Uncontrolled Keywords : Alleles Base Sequence Binding Sites/genetics Catalytic Domain/genetics Codon, Nonsense/genetics DNA Mutational Analysis Enteropeptidase/chemistry/*deficiency/genetics Enzyme Precursors/chemistry/*deficiency/genetics Exons/genetics Failure to Thrive/enzymology/genetics Female Frameshift Mutation/genetics Heterozygote Humans Introns Male Metabolism, Inborn Errors/*enzymology/*genetics Mutation/*genetics Pedigree Polymorphism, Genetic/genetics Polymorphism, Single Nucleotide/genetics
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 10:42
Last Modified : 24 Jan 2020 19:53

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