The majority of information has been collected retrospectively from medical genetic evaluations. There have been at least 30 case reports, case series, and cohort studies published in the literature that taken together describe more than 100 individuals with FOXP1S. FOXP1 syndrome (FOXP1S) is associated with “intellectual disability with language impairment and with or without autistic features” (OMIM #613670) and is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). Since then, many more cases have been reported and FOXP1 syndrome is now a recognizable entity.
In 2010, Hamdan and colleagues described two cases with ID and features of autism spectrum disorder (ASD) in whom a deletion involving FOXP1 and a sequence variant in FOXP1 were found. In 2009, Pariani and colleagues reported a child with intellectual disability (ID) and a multigenic deletion including the FOXP1 gene, and hypothesized that FOXP1 contributed to ID. It has also been suggested that the FOXP1 protein plays a critical role in striatal regulation and vocal communication, and when disrupted, may contribute to expressive language deficits. The FOXP1 protein is widely expressed in human tissues and is involved in regulating the development of the brain, heart, lung, esophagus, immune system, and spinal motor neurons. The FOXP1 gene, located on chromosome 3p14.1, codes for a transcriptional repressor protein. The Creative Commons Public Domain Dedication waiver ( ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.įOXP1 (forkhead box P1) (OMIM#605515) is a member of the forkhead box family of transcriptional factors that play important roles in the regulation of gene transcription from early development through adulthood. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
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