导致先天性肾上腺发育不全的NR0B1（DAX1）基因中的九个新突变。

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

作者信息

Zhang Y H, Huang B L, Anyane-Yeboa K, Carvalho J A, Clemons R D, Cole T, De Figueiredo B C, Lubinsky M, Metzger D L, Quadrelli R, Repaske D R, Reyno S, Seaver L H, Vaglio A, Van Vliet G, McCabe L L, McCabe E R, Phelan J K

机构信息

Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095-1752, USA.

出版信息

Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236.

DOI:10.1002/humu.1236

PMID:11748852

Abstract

X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). Two additional families segregate previously identified NR0B1 mutations (501delA and R425T). Sequence analysis of the mitochondrial D-loop indicates that the 501delA family is unrelated through matrilineal descent to our previously analyzed 501delA family.

摘要

X连锁先天性肾上腺发育不全（AHC）由NR0B1基因突变引起。该基因编码核受体超家族的一个孤儿成员，即DAX1。我们实验室正在进行的研究在X连锁AHC患者中鉴定出9种新的NR0B1突变（Y81X、343delG、457delT、629delG、L295P、926 - 927delTG、1130delA、1141 - 1155del15和E428X）。另外两个家系分离出先前鉴定的NR0B1突变（501delA和R425T）。线粒体D环的序列分析表明，501delA家系通过母系血统与我们之前分析的501delA家系无关。