Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

Mol Genet Metab. 2002 May;76(1):68-70. doi: 10.1016/s1096-7192(02)00013-6.

Abstract

Ornithine transcarbamylase (OTC, EC 2.1.3.3) deficiency (OTCD; OMIM #311250) is known to be genetically very heterogeneous, with many cases occurring de novo, due to an exceptional instability of the OTC gene. We report a new G > T substitution in the first nucleotide of intron 2 and we describe also a novel SNP (IVS8 + 35 nt: G > T) with very convenient frequencies (62%/38%) for its use as an extra tool for OTCD diagnosis in cases of suspected deletions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic
  • Sequence Analysis, DNA

Substances

  • Ornithine Carbamoyltransferase

Associated data

  • OMIM/311250