ACTH receptor mutation in a girl with familial glucocorticoid deficiency
ACTH receptor mutation in a girl with familial glucocorticoid deficiency
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DOI：
10.1034/j.1399-0004.1998.531530112.x
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发表时间：
1998-01-01
影响因子：
3.5
通讯作者：
Wilkie, AOM
中科院分区：
文献类型：
--
作者：
Slavotinek, AM;Hurst, JA;Wilkie, AOM
家族性糖皮质激素缺乏症(FGD)长期以来一直被认为是一种临床实体，但到目前为止只在少数人中进行了分子研究。我们描述了一个血缘关系密切的巴基斯坦父母所生的女孩，她的临床和生化特征是促肾上腺皮质激素(ACTH)受体基因R146H突变纯合。这种突变在ACTH受体基因中创建了一个新的限制酶位点，使得无需DNA测序就可以准确地确定突变的特征。我们的患者是据报道的第三个R146H突变纯合子儿童。有趣的是，她身材高大，据报道，这是在几个患有ACTH不足和ACTH受体基因突变的儿童中的临床发现。我们建议对具有FGD临床特征和身材较高的儿童进行ACTH受体基因突变分析。
Familial glucocorticoid deficiency (FGD) has long been recognised as a clinical entity, but molecular studies have so far been performed in only a few individuals. We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene. This mutation creates a new restriction enzyme site in the ACTH receptor gene, allowing accurate characterisation of the mutation without DNA sequencing. Our patient is the third child reported to be homozygous for the R146H mutation. Interestingly, she has a tall stature, a clinical finding reported in several children who have ACTH insufficiency and mutations of the ACTH receptor gene. We suggest that mutation analysis of the ACTH receptor gene be considered in children with clinical features of FGD and tall stature.