Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) With Language Impairment Accompanied by Developmental Disability Caused by Forkhead Box Protein 1 (FOXP1) Exon Deletion: A Case Report.

ABSTRACT: Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which codes for a transcriptional repressor protein. FOXP1 syndrome (FOXP1S) (OMIM #613670) is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). It is identified by the presence of intellectual disability with language impairment, with or without autistic features. This paper describes the case of a seven-year-old girl mainly presenting with autism spectrum disorder, language impairment, and intellectual disability. In addition, she also exhibited signs of attention deficit hyperactivity disorder. Whole-exome sequencing showed that she had a mutation in the FOXP1 gene; the variant revealed was FOXP1: NM_001244813 with a deleted segment (1152-1164) of exon 11. Subs

SUBMITTER: Alenezi S 

PROVIDER: S-EPMC8782629 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature