A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

ABSTRACT: FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language deficits. We report on a female child with a history of severe hypotonia, autism spectrum disorder and mild intellectual disability with severe speech/language impairment. Clinical exome sequencing identified a heterozygous de novo FOXP1 variant c.1267_1268delGT (p.V423Hfs*37). Functional analyses using cellular models show that the variant disrupts multiple aspects of FOXP1 activity, including subcellular localization and transcriptional repression properties. Our findings highlight the importance

SUBMITTER: Lozano R 

PROVIDER: S-EPMC4795189 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature