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Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.

Chan, LF; Metherell, LA; Krude, H; Ball, C; O'Riordan, SM; Costigan, C; Lynch, SA; Savage, MO; Cavarzere, P; Clark, AJ (2009) Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clinical Endocrinology, 71 (2). 171 - 175. ISSN 0300-0664 https://doi.org/10.1111/j.1365-2265.2008.03511.x
SGUL Authors: Clark, Adrian John L

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Abstract

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Mutations in the ACTH receptor (MC2R) account for approximately 25% of all FGD cases, but since these are usually missense mutations, a degree of receptor function is frequently retained. A recent report, however, suggested that disturbances in the renin-aldosterone axis were seen in some patients with potentially more severe MC2R mutations. Furthermore, MC2R knock out mice have overt aldosterone deficiency and hyperkalaemia despite preservation of a normal zona glomerulosa. We wished to determine whether a group of patients with severe nonsense mutations of the MC2R exhibited evidence of mineralocorticoid deficiency, thereby challenging the conventional diagnostic feature of FGD which might result in diagnostic misclassification.

Item Type: Article
Additional Information: Copyright © 2009 Blackwell Publishing Ltd Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
Keywords: Adolescent, Adrenal Gland Diseases, Child, Child, Preschool, Codon, Nonsense, Female, Frameshift Mutation, Glucocorticoids, Humans, Infant, Infant, Newborn, Male, Mineralocorticoids, Pedigree, Receptors, Corticotropin, Retrospective Studies, MELANOCORTIN 2 RECEPTOR, ADRENOCORTICOTROPIN RECEPTOR, FUNCTIONAL-CHARACTERIZATION, GENE, ABNORMALITIES, MICE, Endocrinology & Metabolism, 1103 Clinical Sciences, 1114 Paediatrics And Reproductive Medicine
Journal or Publication Title: Clinical Endocrinology
ISSN: 0300-0664
Dates:
DateEvent
1 August 2009Published
PubMed ID: 19170705
Web of Science ID: 19170705
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URI: http://openaccess.sgul.ac.uk/id/eprint/101429
Publisher's version: https://doi.org/10.1111/j.1365-2265.2008.03511.x

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