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  

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

作　　者：孔令恩[1] 邱金华[1] 李才明[1] 周谦武[1] 邱志维 庄顺芝 邹锦秀[1] 郑燕霞 Kong Ling’en;Qiu Jinhua;Li Caiming;Zhou Qianwu;Qiu Zhiwei;Zhuang Shunzhi;Zou Jinxiu;Zheng Yanxia(Department of Neurology,Huizhou First People’s Hospital,Huizhou,Guangdong 516003,China)

机构地区：[1]惠州市第一人民医院神经内科,广东516003

出　　处：《中华医学遗传学杂志》2022年第1期60-63,共4页Chinese Journal of Medical Genetics

摘　　要：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,血清极长链脂肪酸升高,ABCD1基因检测显示存在c.1509delG(p.L504Sfs*54)半合子变异。该变异来源于先证者母亲,先证者的父亲及100名健康对照者未发现上述变异。结论X-连锁肾上腺脑白质营养不良临床表现多样。c.1509delG(p.L504Sfs*54)为新发现的致病性变异,基因检测有助于明确诊断以及提供遗传咨询。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.

关 键 词：X-连锁肾上腺脑白质营养不良 ABCD1基因 血清极长链脂肪酸 变异 

分 类 号：R596[医药卫生—内科学]