A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father
J Genet
;
2020 Apr; 99: 1-5
Article
| IMSEAR
| ID: sea-215534
ABSTRACT
Ornithine transcarbamylase deficiency is an X-linked disease with a wide range of clinical severity and manifestation age both in males and females. Here, we describe a case which is caused by a novel c.78-1G[A splice site mutation, which on mRNA level leads to a 1-bp deletion and a frameshift (c.78delG (p.C27Vfs*11)) in OTC exon 2 in a young girl. The same mutation has been detected in a mosaic state in her asymptomatic father.
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IMSEAR (South-East Asia)
Journal:
J Genet
Year:
2020
Type:
Article
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