Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Autor: Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy., Zeuli R; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Daolio C; Pediatric Unit, Carlo Poma Hospital, Mantova, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine, Italy., Zampieri S; Regional Coordinating Center for Rare Diseases, Udine, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63713. Date of Electronic Publication: 2024 Jun 26.
DOI: 10.1002/ajmg.a.63713
Abstrakt: Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or whole gene microdeletion, who showed multiple joint contractures affecting at least two proximal and/or distal joints. Consistent with the phenotype of FOXP1-related disorder, all five patients showed developmental delay with moderate-to-severe speech delay, ID, ASD, and facial dysmorphic features. FOXP1 is implicated in neuronal differentiation and in organizing motor axon projections, thus providing a potential developmental basis for the joint contractures. The combination of joint contractures and neurodevelopmental disorders supports the clinical suspicion of FOXP1-related phenotype.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: