Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl
โ Scribed by Di Pasquale, L.; Indovina, S.; Wasniewska, M.; Mirabelli, S.; Porcelli, P.; Rulli, I.; Salzano, G.; De Luca, F.
- Book ID
- 125337775
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- English
- Weight
- 77 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0391-4097
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๐ SIMILAR VOLUMES
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p
Mutations in the 3 -hydroxysteroid dehydrogenase (3 -HSD) type II gene have been reported in a small number of affected females. We report a 46,XX girl born to consanguineous parents from Chile. At birth, she had normal but hyperpigmented female external genitalia. At 60 days she presented salt loss