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Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.

Molecular genetics & genomic medicine - 1 Apr 2026

Li Yan-Fang, Zhang Song-Hui, Zhen Li, Zhang Lan-Zhen

Abstract excerpt

OBJECTIVE: Autosomal recessive microcephaly type 2 (MCPH2), caused by biallelic WDR62 variants, is a rare neurodevelopmental disorder typically described postnatally. We aimed to delineate its prenatal phenotype via data from two affected fetuses in a family. METHODS: Trio whole-exome sequencing (WES) was performed on one fetus and his parents. Variants were prioritized via population databases, computational...

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PMID: 42002830
DOI: 10.1002/mgg3.70203
PMCID: PMC13092497

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