A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
Copyright policy )A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
BackgroundMelanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1).Case presentationWe first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in MC2R, presenting with skin hyperpigmentation, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients.ConclusionsWe reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.
- Hunan Provincial People 's Hospital China (People's Republic of)
- Hunan Normal University China (People's Republic of)
Steroid Metabolism, Inborn Errors, FGD1, East Asian People, MC2R, homozygous mutation, RC648-665, ACTH resistance, Diseases of the endocrine glands. Clinical endocrinology, Endocrinology, Chinese siblings, Mutation, Humans, Glucocorticoids, Receptor, Melanocortin, Type 2, Adrenal Insufficiency
Steroid Metabolism, Inborn Errors, FGD1, East Asian People, MC2R, homozygous mutation, RC648-665, ACTH resistance, Diseases of the endocrine glands. Clinical endocrinology, Endocrinology, Chinese siblings, Mutation, Humans, Glucocorticoids, Receptor, Melanocortin, Type 2, Adrenal Insufficiency
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).3 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!