Genetic analysis of a patient with late infantile metachromatic leukodystrophy
10.3760/cma.j.issn.1003-9406.2020.02.013
- VernacularTitle:一例晚期婴儿型异染性脑白质营养不良患儿的遗传学分析
- Author:
Ke YANG
1
;
Yuwei ZHANG
;
Guiyu LOU
;
Na QI
;
Ling WANG
;
Hongjie ZHU
;
Bing ZHANG
;
Dan WANG
;
Shixiu LIAO
Author Information
1. 河南省人民医院
- Keywords:
Metachromatic Leukodystrophy;
ARSA gene;
Gene variant
- From:
Chinese Journal of Medical Genetics
2020;37(2):153-155
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).Methods PCR and Sanger sequencing was carried out for the patient and her parents.Results The patient had typical features of MLD including ARSA deficiency,regression of walking ability,and demyelination.Compound heterozygous variants of the ARSA gene,namely c.960G＞A and c.244C＞T,were detected in the patient,for which her mother and father were respectively heterozygous carriers.ARSA c.960G＞A was known to be pathogenic,while ARSA c.244C＞T was a novel variant.The same variants were not detected among 50 healthy controls.Conclusion The compound heterozygous variants c.960G＞A and c.244C＞T of the ARSA gene probably underlie the MLD in this patient.
