Document Detail


Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.
MedLine Citation:
PMID:  11509019     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J C Achermann; J J Meeks; B Jeffs; U Das; P E Clayton; C G Brook; J L Jameson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  73     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-08-17     Completed Date:  2001-11-01     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  354-7     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Academic Press.
Affiliation:
Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, 250 East Superior Street, Chicago, IL 60611, USA.
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MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / genetics*,  pathology
Base Sequence
Child, Preschool
Consanguinity
Exons / genetics
Female
Homozygote
Humans
Infant
Infant, Newborn
Karyotyping
Male
Models, Molecular
Nuclear Family
Pedigree
Phosphoproteins / analysis,  chemistry,  genetics*
Point Mutation / genetics*
Protein Conformation
Seminiferous Tubules / chemistry,  pathology
Grant Support
ID/Acronym/Agency:
P01 HD-21921/HD/NICHD NIH HHS; U54-HD-29164/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Phosphoproteins; 0/steroidogenic acute regulatory protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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