AUTHOR=Cesaroni Carlo Alberto , Pollazzon Marzia , Mancini Cecilia , Rizzi Susanna , Cappelletti Camilla , Pizzi Simone , Frattini Daniele , Spagnoli Carlotta , Caraffi Stefano Giuseppe , Zuntini Roberta , Trimarchi Gabriele , Niceta Marcello , Radio Francesca Clementina , Tartaglia Marco , Garavelli Livia , Fusco Carlo TITLE=Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures JOURNAL=Frontiers in Neurology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1207176 DOI=10.3389/fneur.2023.1207176 ISSN=1664-2295 ABSTRACT=Objective

We aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features.

Methods

We performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features.

Results

WES allowed us to identify a previously unreported de novo splice site variant, c.1429-1G>T (NM_032682.6), in the FOXP1 gene (OMIM*605515) as the causative event underlying the phenotype. Clinical reassessment of the patient and revision of the literature allowed us to refine the phenotype associated with FOXP1 haploinsufficiency, including hyperkinetic movement disorder and flat angiomas as associated features. Interestingly, the patient also has an asymmetric face and choanal atresia and a novel de novo variant of the CHD7 gene.

Conclusion

We suggest that FOXP1-related ID syndrome may also predispose to the development of hyperkinetic movement disorders and flat angiomas. These features could therefore require specific management of this condition.