Phelan J K, McCabe E R
Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095-1752, USA.
Hum Mutat. 2001 Dec;18(6):472-87. doi: 10.1002/humu.1225.
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.
先天性肾上腺发育不全（AHC）由于肾上腺皮质发育失败而导致原发性肾上腺功能不全。临床和家系数据表明该病症在遗传上具有异质性。然而，主要的先天性肾上腺发育不全基因座是位于Xp21的NR0B1基因，其编码蛋白质DAX1。在本文中，我们呈现了已发表的NR0B1突变和多态性的汇总，并在已知生物学和临床适用性的背景下对它们进行讨论。还讨论了最近关于因编码SF1的NR5A1突变导致原发性肾上腺功能不全患者的描述。
