WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

Autor: Graziani L; Department of Biomedicine and Prevention, University of Rome 'tor Vergata', Rome, Italy., Carriero ML; Department of Biomedicine and Prevention, University of Rome 'tor Vergata', Rome, Italy., Ferradini V; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Conte C; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Bengala M; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Sangiuolo FC; Department of Biomedicine and Prevention, University of Rome 'tor Vergata', Rome, Italy.; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy., Novelli G; Department of Biomedicine and Prevention, University of Rome 'tor Vergata', Rome, Italy.; Medical Genetics Unit, Tor Vergata University Hospital, Rome, Italy.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Nov 29. Date of Electronic Publication: 2024 Nov 29.
DOI: 10.1111/cge.14665
Abstrakt: 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.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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