Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy.
10.3760/cma.j.cn511374-20200624-00469
- Author:
Lingen KONG
1
;
Jinhua QIU
;
Caiming LI
;
Qianwu ZHOU
;
Zhiwei QIU
;
Shunzhi ZHUANG
;
Jinxiu ZOU
;
Yanxia ZHENG
Author Information
1. Department of Neurology, Huizhou First People's Hospital, Huizhou, Guangdong 516003, China. caiminglee@21cn.com.
- Publication Type:Journal Article
- MeSH:
Adrenoleukodystrophy/genetics*;
Asians/genetics*;
China;
Female;
Genetic Testing;
Humans;
Male;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2022;39(1):60-63
- CountryChina
- Language:Chinese
-
Abstract:
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 were 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.
