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Article

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants.

Human genomics - 2 Feb 2026

Xi Jianan, Deng Fangyu, Liang Menghui, Ding Yerui, Li Xining, Gu Zhanghan, Lin Zhongdong, Liu Zhenwei, Li Xiucui

Abstract excerpt

BACKGROUND: Microtubule and actin crosslinking factor 1 (MACF1) plays a critical role in cytoskeletal regulation. Pathogenic variants in MACF1 are associated with a heterogeneous range of phenotypes, including epilepsy, intellectual disability, developmental delay, brain malformations, and hypotonia. This study aims to report two novel MACF1 variants and further explore the genotype-phenotype correlations and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41629993
DOI: 10.1186/s40246-026-00917-y
PMCID: PMC12918444

Genes

MACF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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