Open AccessMissense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2
Author(s) -
Claire Hughes,
Teng-Teng Chung,
Abdelhadi Habeb,
Fahrettin Keleştimur,
Adrian Clark,
Louise Metherell
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-2731
Subject(s) - missense mutation , melanocortin , glucocorticoid receptor , mutation , endocrinology , glucocorticoid , genetics , receptor , medicine , biology , gene
Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor [melanocortin 2 receptor (MC2R)] or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. Typically, type 2 patients present early (median age, 0.1 yr), and no patient reported to date has presented after 1.6 yr.
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