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

John C. Achermann; Joshua J. Meeks; Baxter Jeffs; Urmi Das; Peter E. Clayton; Charles G.D. Brook; J. Larry Jameson

doi:10.1006/mgme.2001.3202

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

John C. Achermann, Joshua J. Meeks, Baxter Jeffs, Urmi Das, Peter E. Clayton, Charles G.D. Brook, J. Larry Jameson^*

^*Corresponding author for this work

Urology

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	354-357
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	73
Issue number	4
DOIs	https://doi.org/10.1006/mgme.2001.3202
State	Published - 2001

Keywords

Adrenal
Lipid transfer domain
Lipoid congenital adrenal hyperplasia
Parotid tumor
StAR
Testis

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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

abstract = "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.",

keywords = "Adrenal, Lipid transfer domain, Lipoid congenital adrenal hyperplasia, Parotid tumor, StAR, Testis",

author = "Achermann, {John C.} and Meeks, {Joshua J.} and Baxter Jeffs and Urmi Das and Clayton, {Peter E.} and Brook, {Charles G.D.} and Jameson, {J. Larry}",

note = "Funding Information: This work was performed as part of the National Cooperative Program for Infertility Research and was supported by NIH Grants U54-HD-29164 and PO1 HD-21921. The third author holds a Wellcome Trust International Prize Travelling Research Fellowship (Grant 056375). We thank Dr. J. F. Strauss, III, University of Pennsylvania Medical Center, for the anti-human StAR antibody.",

year = "2001",

doi = "10.1006/mgme.2001.3202",

language = "English (US)",

volume = "73",

pages = "354--357",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

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Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia. / Achermann, John C.; Meeks, Joshua J.; Jeffs, Baxter; Das, Urmi; Clayton, Peter E.; Brook, Charles G.D.; Jameson, J. Larry.

In: Molecular Genetics and Metabolism, Vol. 73, No. 4, 2001, p. 354-357.

Research output: Contribution to journal › Article › peer-review

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AU - Jeffs, Baxter

AU - Das, Urmi

AU - Clayton, Peter E.

AU - Brook, Charles G.D.

AU - Jameson, J. Larry

N1 - Funding Information: This work was performed as part of the National Cooperative Program for Infertility Research and was supported by NIH Grants U54-HD-29164 and PO1 HD-21921. The third author holds a Wellcome Trust International Prize Travelling Research Fellowship (Grant 056375). We thank Dr. J. F. Strauss, III, University of Pennsylvania Medical Center, for the anti-human StAR antibody.

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