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 predomi nant adrenal hypoplasia congenita locus, however, is the NROB1 gene, at Xp2 1, encoding the protein DAX1. In this article, we present a compendium of p ublished NROB1 mutations and polymorphisms, and discuss them in the context s of known biology and clinical applicability. The recent descriptions of p atients with primary adrenal in. sufficiency due to mutations of NR5A1, whi ch encodes SF1, are also discussed. Hum Mutat 18:472-487, 2001. (C) 2001 Wi ley-Liss, Inc.