Deletions of variable size involving one or more exons, 29 different missense, nonsense, or frameshift mutations, and three polymorphisms have been found in patients with ornithine transcarbamylase (OTC) deficiency. Most of the deletions and mutations were found in patients with severe disease manif
Seven new mutations in the human ornithine transcarbamylase gene
β Scribed by Mendel Tuchman; Robert J. Plante; Mark T. McCann; Amber A. Qureshi
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 344 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait. Defects in the OTC gene cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death. Three previous mutation updates for
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations
Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male pat