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Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

✍ Scribed by James K. Phelan; Edward R.B. Mccabe

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 364 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1225

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✦ Synopsis

Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp21, encoding the protein DAX1. In this article, we present a compendium of published NR0B1 mutations and polymorphisms, and discuss them in the contexts of known biology and clinical applicability. The recent descriptions of patients with primary adrenal insufficiency due to mutations of NR5A1, which encodes SF1, are also discussed. Hum Mutat 18:472-487, 2001.

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