Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

S Genet; T Cranston; H R Middleton-Price

doi:10.1023/a:1005614409241

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

J Inherit Metab Dis. 2000 Nov;23(7):669-76. doi: 10.1023/a:1005614409241.

Authors

S Genet¹, T Cranston, H R Middleton-Price

Affiliation

¹ Clinical Molecular Genetics, Great Ormond Street Hospital for Children NHS Trust, London, UK. sally.genet@gosh-tr.nthames.nhs.uk

PMID: 11117428
DOI: 10.1023/a:1005614409241

Abstract

The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct mutation analysis is essential for providing accurate carrier detection and prenatal diagnosis in affected families. We present our strategy for mutation detection in the OCT gene and summarize the results from 31 families with a confirmed diagnosis and 34 families with a suspected diagnosis of OCT deficiency, and describe 14 previously unreported mutations.

MeSH terms

Alternative Splicing
Codon, Nonsense
Gene Deletion
Humans
Mutation*
Mutation, Missense
Ornithine Carbamoyltransferase / genetics*
Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
Ornithine Carbamoyltransferase Deficiency Disease / enzymology*
Ornithine Carbamoyltransferase Deficiency Disease / genetics
Point Mutation

Substances

Codon, Nonsense
Ornithine Carbamoyltransferase