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Article

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

BMC pediatrics - 12 Dec 2025

Zhang Zhenkun, Chen Zhehui, Bie Xiaofan, Xie Zhenhua, Li Xian, Liu Jing, Xiao Mengjun, Zhang Qiang, Zhang Yaodong, Yang Yanling, Li Dongxiao

Abstract excerpt

BACKGROUND: The DRP1 protein, a member of the dynamin superfamily of GTPases, is encoded by the dynamin-1-like (DNM1L) gene and plays a critical role in mitochondrial fission. There was significant clinical heterogeneity in DNM1L-related disorders. METHODS: Whole exome sequencing (WES) was used to identify potential genetic causes of the phenotype in probands. Bioinformatics analysis was performed to analyze the...

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Identifiers

PMID: 41387803
DOI: 10.1186/s12887-025-06299-9
PMCID: PMC12699863

Genes

DNM1L

Variants

Provenance

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