Weber A, Clark A J
Department of Endocrinology, St Bartholomew's Hospital Medical College, London, UK.
Hum Mol Genet. 1994 Apr;3(4):585-8. doi: 10.1093/hmg/3.4.585.
Familial glucocorticoid deficiency (FGD) is an autosomal recessive syndrome of failure of adrenal cortisol responsiveness to adrenocorticotropin (ACTH). Defects in the ACTH receptor have been suggested as a possible cause, and we have previously reported a point mutation in this gene in a family with FGD. Investigation of seven additional families has revealed a number of novel mutations in the ACTH receptor in some, but a normal gene in others suggesting that the aetiology of FGD may be heterogeneous. Using a highly polymorphic CA repeat marker (D18S40) closely linked to the ACTH receptor locus, we are now able to confirm that some cases of FGD result from defects at another locus. FGD provides an example of a single relatively homogeneous clinical syndrome resulting from two different molecular aetiologies.
家族性糖皮质激素缺乏症（FGD）是一种常染色体隐性综合征，其特征为肾上腺皮质醇对促肾上腺皮质激素（ACTH）无反应。促肾上腺皮质激素受体缺陷被认为是可能的病因，我们之前报道过一个患有FGD的家族中该基因存在一个点突变。对另外七个家族的调查显示，部分家族的促肾上腺皮质激素受体存在一些新的突变，但其他家族该基因正常，这表明FGD的病因可能具有异质性。利用与促肾上腺皮质激素受体基因座紧密连锁的高度多态性CA重复标记（D18S40），我们现在能够证实，部分FGD病例是由另一个基因座的缺陷导致的。FGD提供了一个由两种不同分子病因导致单一相对同质临床综合征的例子。
