Novel Compound Heterozygous Mutation of the MC2R Gene in a Patient with Familial Glucocorticoid Deficiency
Novel Compound Heterozygous Mutation of the MC2R Gene in a Patient with Familial Glucocorticoid Deficiency
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DOI：
10.1515/jpem.2006.19.9.1167
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发表时间：
2006
影响因子：
1.4
通讯作者：
Hiroki Matsuura;Masaaki Shiohara;Mizuki Yamano;K. Kurata;Fumi Arai;Kenichi Koike
中科院分区：
文献类型：
--
作者：
Hiroki Matsuura;Masaaki Shiohara;Mizuki Yamano;K. Kurata;Fumi Arai;Kenichi Koike
家族性糖皮质激素缺乏症（FGD）是一种以糖皮质激素不足为特征的常染色体隐性遗传疾病。在此，我们报告一个2岁的女孩患有FGD，显示身材高大和皮肤色素沉着，但没有异常的外生殖器。血清钠、钾和氯水平在正常范围内。内分泌学分析显示血清皮质醇低（<5.5 nmol/l），血浆ACTH升高（875.2 pmol/l）和17 α-羟孕酮低（< 0.303 nmol/l）。我们怀疑患者患有FGD 1型。黑皮质素2受体基因（MC 2 R）的直接和等位基因特异性序列分析显示MC 2 R基因中存在复合杂合突变（C21 Y和R146 H）。她的父亲和母亲分别有杂合子C21 Y和R146 H突变，没有糖皮质激素缺乏症的症状。这是第一个报告的FGD与复合杂合突变的C21 Y和R146 H在MC 2 R基因。
Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterised by glucocorticoid insufficiency without mineralocorticoid deficiency. Here, we report a 2 year-old girl with FGD, showing tall stature and skin pigmentation, but no abnormalities of the external genitalia. Serum sodium, potassium and chloride levels were within normal ranges. Endocrinological analysis revealed low serum cortisol (<5.5 nmol/1), elevated plasma ACTH (875.2 pmol/1) and low 17alpha-hydroxyprogesterone (< 0.303 nmol/l). We suspected the patient of having FGD type 1. Direct and allele-specific sequence analyses of the melanocortin 2 receptor gene (MC2R) revealed compound heterozygous mutations (C21Y and R146H) in the MC2R gene. Her father and mother each had heterozygous C21Y and R146H mutations, respectively, without symptoms of glucocorticoid deficiency. This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene.