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

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 muta...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2000-11, Vol.23 (7), p.669-676
Main Authors: Genet, S., Cranston, T., Middleton‐Price, H. R.
Format: Article
Language:English
Subjects:
Alternative Splicing
Aminoacid disorders
Biological and medical sciences
Codon, Nonsense
Errors of metabolism
Gene Deletion
Humans
Medical sciences
Metabolic diseases
Mutation
Mutation, Missense
Ornithine Carbamoyltransferase - genetics
Ornithine Carbamoyltransferase Deficiency Disease - diagnosis
Ornithine Carbamoyltransferase Deficiency Disease - enzymology
Ornithine Carbamoyltransferase Deficiency Disease - genetics
Point Mutation
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Description
Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005614409241