Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2


Hughes C. R. , Chung T. T. , Habeb A. M. , Kelestimur F., Clark A. J. L. , Metherell L. A.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.95, ss.3497-3501, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 95 Konu: 7
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1210/jc.2009-2731
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.3497-3501

Özet

Background: 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.