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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...

Topics

Humans
Male
Epilepsy
Female
Mosaicism
Neurodevelopmental Disorders
Infant
Mutation
Pregnancy
Carrier Proteins
High-Throughput Nucleotide Sequencing
Adult

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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