WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly

Ludovico Graziani; Miriam Lucia Carriero; Valentina Ferradini; Chiara Conte; Mario Bengala; Federica Carla Sangiuolo; Giuseppe Novelli

doi:10.1111/cge.14665

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly

Clin Genet. 2024 Nov 29. doi: 10.1111/cge.14665. Online ahead of print.

Authors

Ludovico Graziani¹, Miriam Lucia Carriero¹, Valentina Ferradini², Chiara Conte², Mario Bengala², Federica Carla Sangiuolo^{1

2}, Giuseppe Novelli^{1

2}

Affiliations

¹ Department of Biomedicine and Prevention, University of Rome "tor Vergata", Rome, Italy.
² Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy.

PMID: 39614649
DOI: 10.1111/cge.14665

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.