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Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Molecular genetics & genomic medicine - 1 Feb 2024

Zha Jian, Chen Yong, Cao Fangfang, Xu Yuxin, Yang Zuozhen, Wen Shu, Liang Mengmeng, Wu Huaping, Zhong Jianmin

Abstract excerpt

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene. METHODS: Clinical data such as magnetic resonance imaging (MRI), routine blood tests, and physical examinations were collected from proband. Trio whole-exome sequencing (WES) of the...

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PMID: 38337154
DOI: 10.1002/mgg3.2394
PMCID: PMC10858299

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