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Article

A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.

Gene - 5 Feb 2025

Mou Can, Zhou Lan, Xiong Jiao Jiao, Lei Ling

Abstract excerpt

This paper reports a case of a WDR45 variant inherited from an asymptomatic low-percentage mosaic mother. The proband boy was found to have significant psychomotor developmental delay, epilepsy, and abnormal liver function at four months of age, and a hemizygous variant WDR45 c.867_869dupGTA (p.Y290*) was detected by high throughput sequencing, which has an ACMG rating of likely pathogenic variant. The same...

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Identifiers

PMID: 39500384
DOI: 10.1016/j.gene.2024.149032

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