Research & Studies

FOXP1-related intellectual disability syndrome: a recognizable entity

Published March 2018
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Plain-Language Summary

Clinical and genetic data from 48 individuals with FOXP1 variants documenting intellectual disability, language impairment and neuromotor delay.

This study correlates clinical and genetic data of forty-eight individuals with a FOXP1 variant. The data demonstrates I.D. (intellectual disability), SLI (specific language impairment), and NMD (neuromotor delay) and recurrent facial features are noted. Autistic and other behavioral features are noted. Various organ system malformations are associated with the mutation. Hearing loss and feeding difficulties are also indicated in the data. The wide clinical spectrum and frequent systemic involvement identified in these forty-eight patients will help in the evaluation and clinical management of individuals with FOXP1 Syndrome.

Published
Published March 2018
Authors

Ilse Meerschaut, Daniel Rochefort, Nicole Revencu, Justine Petre, Christina Corsello, Guy A Rouleau (2017)