Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

• Type: Article in International Scientific Journal
• Date: 2006

Authors

Azevedo, L (Author) Other; Soares, PA (Author) Other; Quental, R (Author) Other; Vilarinho, L (Author) Other; Teles, EL (Author) Other; Martins, E (Author) Other; Diogo, L (Author) Other; Garcia, P (Author) Other; Cenni, B (Author) Other; Wermuth, B (Author) Other; Amorim, A (Author) FCUP

Journal

Title: Annals of Human Genetics

Vol. 70

Pages: 797-801

ISSN: 0003-4800

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 8 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-004-G5V

DOI: 10.1111/j.1469-1809.2006.00283.x

Abstract (EN): Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset OTC deficiency patients. Mutations were identified in all these patients, among which six were novel point substitutions (L59R, A137P, L148S, Y176L, L186P, and K210N) and one was a 2-bp deletion at exon 4 (341-342delAA). In addition, a de novo genomic deletion of maternal origin encompassing exons 1 to 5 was also identified by the analysis of LD patterns using intragenic polymorphic markers. This work exemplifies the potential value of population genetic studies for the detection of large deletions.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5