title: Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
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.
authors.affiliation: IPA TIMUP, Porto, Portugal. lazevedo@ipatimup.pt
authors.forename: Luísa
authors.initials: L
authors.lastname: Azevedo
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Elisa Leão
authors.initials: EL
authors.lastname: Teles
authors.forename: António
authors.initials: A
authors.lastname: Amorim
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D009954:Ornithine Carbamoyltransferase