Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
- 23 June 2010
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 18 (11), 1216-1220
- https://doi.org/10.1038/ejhg.2010.96
Abstract
Human FOXP2 deficiency has been identified as a cause of hereditary developmental verbal dyspraxia. Another member of the same gene family, FOXP1, has expression patterns that overlap with FOXP2 in some areas of the brain, and FOXP1 and FOXP2 have the ability to form heterodimers. These findings suggest the possibility that FOXP1 may also contribute to proper speech development. However, no such role of FOXP1 has been established to date. Recently, a child was reported who presented with a 3p13-14.1 deletion of four genes, including FOXP1, and a constellation of deficits that included speech delay. In this study, we report the case of a patient with a single deletion of FOXP1. This patient presented with speech and motor developmental delays, a Chiari I malformation, and epileptiform discharges. The nature of the speech deficit is different from the primary oromotor verbal dyspraxia found in patients with FOXP2 deficiency. The patient's developmental deficits may support a role for FOXP1 in the development of verbal and motor skills.Keywords
This publication has 34 references indexed in Scilit:
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applicationsGenome Research, 2009
- Assessing the impact of FOXP1 mutations on developmental verbal dyspraxiaEuropean Journal of Human Genetics, 2009
- A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosisEuropean Journal of Medical Genetics, 2009
- Coordinated Actions of the Forkhead Protein Foxp1 and Hox Proteins in the Columnar Organization of Spinal Motor NeuronsNeuron, 2008
- Incomplete and Inaccurate Vocal Imitation after Knockdown of FoxP2 in Songbird Basal Ganglia Nucleus Area XPLoS Biology, 2007
- High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language DisordersAmerican Journal of Human Genetics, 2007
- Identification of the Transcriptional Targets of FOXP2, a Gene Linked to Speech and Language, in Developing Human BrainAmerican Journal of Human Genetics, 2007
- Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal DyspraxiaAmerican Journal of Human Genetics, 2006
- Seizures in paediatric Chiari type I malformation: the role of singlephoton emission computed tomographyActa Paediatrica, 2002
- Characterization of a New Subfamily of Winged-helix/Forkhead (Fox) Genes That Are Expressed in the Lung and Act as Transcriptional RepressorsJournal of Biological Chemistry, 2001