一个X-连锁肾上腺脑白质营养不良家系的临床特点及基因变异分析

目的:探讨一个X-连锁肾上腺脑白质营养不良家系的临床特点及 ABCD1基因的变异方式。 方法:分析X-连锁肾上腺脑白质营养不良家系的临床资料，采用PCR方法对家系中的先证者、父母以及100名健康对照者的 ABCD1基因进行DNA测序。 结果:患者主要以脑干、小脑损害为突出表现...

Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy

Objective To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.Methods Clinical data of the proband were collected and analyzed.Potential variant of the ABCD1 gene was analyzed by PCR and Sanger sequencing of the proband,his parents and 100 unrelated healthy individuals.Results The prominent features of the proband included cerebellar and brainstem lesions,along with increased serum level of very-long chain fatty acids.He was found to harbor a hemizygous c.1509delG(p.L504Sfs*54)variant of the ABCD1 gene,for which his mother was heterozygous.The same variant was not detected in his father and 100 healthy controls.Conclusion X-linked adrenoleukodystrophy has a variety of clinical manifestations.Discovery of the c.1509delG(p.L504Sfs*54),as a novel pathogenic variant of the ABCD1 gene,has enabled diagnosis and genetic counseling for this pedigree.