Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy
10.3760/cma.j.issn.1003-9406.2019.11.012
- VernacularTitle: 一个X-连锁肾上腺脑白质营养不良家系的基因变异分析
- Author:
Qinqing PAN
1
;
Xiaosheng ZHENG
2
;
Zhidong CEN
3
;
Wei LUO
3
Author Information
1. Department of Neurology, the First People’s Hospital of Wuyi County, Wuyi, Zhejiang 321200, China; Department of Neurology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China; Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang 310012, China
2. Department of Neurology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China; Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang 310012, China
3. Department of Neurology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China
- Publication Type:Clinical Trail
- Keywords:
X-linked adrenoleukodystrophy;
ABCD1 gene;
Next-generation sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(11):1104-1106
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.
Methods:Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.
Results:Both the proband and his mother presented with walking difficulty. A previously known variant, c. 623T>A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.
Conclusion:X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.
