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
,
2
,
3
;
Xiaosheng ZHENG
3
,
4
;
Zhidong CEN
4
;
Wei LUO
4
Author Information
1. Department of Neurology, the First People’s Hospital of Wuyi County, Wuyi, Zhejiang 321200, China
2. Department of Neurology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China
3. Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang 310012, China
4. 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.
