Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

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 NROB1 gene, at Xp21, encoding the protein DAX1. In this article, we present a compendium of published NROB1 mutations and polymorphisms, and discuss them in the contexts of known biology and clinical applicability. The recent descriptions of patients with primary adrenal in. sufficiency due to mutations of NR5A1, which encodes SF1, are also discussed. Hum Mutat 18:472-487, 2001. (C) 2001 Wiley-Liss, Inc.