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A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

✍ Scribed by Miguel Angel García-Pérez; Pablo Sanjurjo; Paz Briones; María José García-Muñoz; Vicente Rubio

Publisher: Springer
Year: 1995
Tongue: English
Weight: 456 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197410

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✦ Synopsis

Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). The mutations represent three different categories: missense (Ile159Thr and Ala209Val), nonsense (Tyr167Stop), and causing inefficient splicing (G---~A in the first intronic base) with associated aberrant splicing. They are located in exons 5, and 6, and in intron 3. Two of the mutations arose de novo in the patients, and only one mutation occurs at a CpG site. The nonsense and the splicing mutation cause, respectively, lethal early onset and non-lethal, delayed early onset clinical presentations in males. Our results confirm for Spain the high genotypic heterogeneity of OTC deficiency.

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