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Article

Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.

Molecular genetics & genomic medicine - 1 Oct 2023

Zhao Xiuying, Chen Tao, Fu Binsha, Fu Zhifu, Xu Kaishou, Zhou Wei

Abstract excerpt

BACKGROUND: KIF2A-related tubulinopathy (MIM: #615411) is a very rare disorder that was clinically characterized as microcephaly, epilepsy, motor developmental disorder (MDD), and various malformations of cortical development, but intellectual disability (ID) or global developmental delay (GDD) was rarely reported in the patients. METHODS: Quad whole-exome sequencing (WES) was performed on the proband, the older...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37331001
DOI: 10.1002/mgg3.2225
PMCID: PMC10568378

Genes

KIF2A

Variants

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