Clinical features and genetic mutation analysis in a family of X-linked adrenoleukodystrophy
10.3760/cma.j.cn311282-20190430-00172
- VernacularTitle:一个X-连锁肾上腺脑白质营养不良家系的临床特征及致病基因分析
- Author:
Xiaomei LIN
1
;
Bo LI
;
Keying ZHOU
;
Yanmei SANG
Author Information
1. 深圳市人民医院儿科，暨南大学第二临床医学院，南方科技大学第一附属医院 518020
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(4):283-287
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features of a kindred of X-linked adrenoleukodystrophy(X-ALD) with the onset of primary adrenocortical insufficiency, and to detect the mutation of ATP-binding cassette, sub-family D, member l(ABCD1) gene.Methods:A Chinese X-ALD kindred with two affected males from two-generations was studied. The clinical data of the proband′s family members were collected. The sequences of ABCD1 of the proband, his parent and young brother were detected by next-generation sequencing. X-ALD was diagnosed according to clinical manifestations, cranial MRI image, and serum level of very long chain fatty acid(VLCFA).Results:The two cases were all males. The proband was characteristic of primary adrenocortical insufficiency and neurological dysfunction, with extensive cerebral white matter demyelination and high serum VLCFA level. At the age of 2 years and 10 months, the younger brother of the proband presented with primary adrenocortical dysfunction, without neurological symptoms. Gene sequencing results of two patients showed a novel missense substitution(c.1666C>T) in exon 7 of ABCD1 inherited from their mother.Conclusion:The new mutation of ABCDl gene c. 1666C>T may lead to adrenoleukodystrophy. Primary adrenocortical insufficiency and neurological dysfunction are the typical manifestations of X-ALD.
