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Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
Author(s) -
Genet S.,
Cranston T.,
MiddletonPrice H. R.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005614409241
Subject(s) - ornithine carbamoyltransferase , mutation , prenatal diagnosis , mutation testing , genetics , human genetics , genetic testing , biology , gene mutation , genetic counseling , gene , medicine , pregnancy , ornithine , fetus , amino acid , arginine
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.