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Case Reports
. 2025 Mar;107(3):369-370.
doi: 10.1111/cge.14665. Epub 2024 Nov 29.

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly

Ludovico Graziani  1 , Miriam Lucia Carriero  1 , Valentina Ferradini  2 , Chiara Conte  2 , Mario Bengala  2 , Federica Carla Sangiuolo  1   2 , Giuseppe Novelli  1   2
Affiliations
Case Reports

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly

Ludovico Graziani et al. Clin Genet. 2025 Mar.

Abstract

WDFY3 (MIM#617485) defects may manifest neurodevelopmental disorders (NDDs) and opposite effects on brain size based on allelic effect. This case highlights a heterozygous WDFY3 nonsense variant linked to mild-to-moderate NDDs, macrocephaly, and unique facial features. Findings emphasize the importance of exome sequencing in NDDs for accurate diagnosis and clinical management.

Keywords: WDFY3; exome sequencing; haploinsufficiency; macrocephaly; neurodevelopmental disorders.

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References

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