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Article

Loss-of-function variants in MARK2 cause neurodevelopmental disorder.

HGG advances - 9 Jul 2026

Yang Yunseon, Shim Yoon-Kyung, Miyake Noriko, Takada Sanami, Silva Sebastian, Peters-Foitzick Alexander, Gupta Abha R, Neuhaus Emily, Bradley Catherine, Taylor Cora, Russell Bianca, Shrewsbury Amanda, Michaelson Jacob J, Murali Chaya N, Gerard Amanda, Geltzeiler Alexa, Chung Wendy K, Chung Hyung-Lok

Abstract excerpt

Microtubule-affinity regulating kinase 2 (MARK2) is a conserved serine/threonine kinase that plays a critical role in microtubule dynamics and neuronal polarity. Rare MARK2 variants have recently been reported in individuals with autism spectrum disorder (ASD) and neurodevelopmental disorder (NDD), and here we expand the number of affected individuals, including a familial case. Despite these clinical findings,...

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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: 41918168
DOI: 10.1016/j.xhgg.2026.100600
PMCID: PMC13127627

Genes

MARK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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