Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia

被引:24
作者
Achermann, JC
Meeks, JJ
Jeffs, B
Das, U
Clayton, PE
Brook, CGD
Jameson, JL
机构
[1] Northwestern Univ, Sch Med, Div Endocrinol Metab & Mol Med, Dept Med, Chicago, IL 60611 USA
[2] Univ Manchester, Royal Manchester Childrens Hosp, Dept Child Hlth, Manchester, Lancs, England
[3] UCL, London Ctr Paediat Endocrinol & Metab, London, England
关键词
StAR; lipoid congenital adrenal hyperplasia; lipid transfer domain; adrenal; testis; parotid tumor;
D O I
10.1006/mgme.2001.3202
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) cause lipoid congenital adrenal hyperplasia. We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. These cases highlight the importance of StAR-dependent steroidogenesis during fetal development and early infancy and of the critical functional role of R182 in cholesterol transport. (C) 2001 Academic Press.
引用
收藏
页码:354 / 357
页数:4
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