Research advances in the clinical genetics of leukodystrophy in children.
10.7499/j.issn.1008-8830.2202020
- Author:
Zhe-Lan HUANG
1
;
Wen-Hao ZHOU
1
Author Information
1. Department of Neonatology, Children's Hospital, Fudan University, Shanghai 201102, China.
- Publication Type:Review
- Keywords:
Child;
Clinical genetics;
Gene;
Leukodystrophy
- MeSH:
Demyelinating Diseases;
High-Throughput Nucleotide Sequencing;
Humans;
Myelin Sheath;
Neurodegenerative Diseases;
Phenotype
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(6):711-716
- CountryChina
- Language:Chinese
-
Abstract:
Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.
