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Article

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Journal of human genetics - 1 Aug 2021

Yan Huifang, Ji Haoran, Kubisiak Thomas, Wu Ye, Xiao Jiangxi, Gu Qiang, Yang Yanling, Xie Han, Ji Taoyun, Gao Kai, Li Dongxiao, Xiong Hui, Shi Zhen, Li Ming, Zhang Yuehua, Duan Ruoyu, Bao Xinhua, Jiang Yuwu, Burmeister Margit, Wang Jingmin

Abstract excerpt

Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES). Trio-based WES was performed for 20 unresolved HLDs families after genetic tests for the PLP1 duplication and a panel of 115 known leukodystrophy-related genes....

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Identifiers

PMID: 33597727
DOI: 10.1038/s10038-020-00896-5
PMCID: PMC8310791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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