Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
| Autor: | William B. Dobyns, Daniel Moreno-De-Luca, Holly H. Zimmerman, Omar A. Abdul-Rahman, Colette C. Parker, Christa Lese Martin, Christopher W. Carr, Nikki Ledbetter |
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| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Developmental Disabilities Haploinsufficiency Audiology Article Communication disorder Genetics medicine Humans Language disorder Abnormalities Multiple Language Development Disorders Developmental verbal dyspraxia Genetics (clinical) Motor skill Comparative Genomic Hybridization Epilepsy business.industry Infant FOXP2 Forkhead Transcription Factors medicine.disease Arnold-Chiari Malformation Developmental disorder Repressor Proteins Child Preschool Speech delay Chromosomes Human Pair 3 medicine.symptom Chromosome Deletion business |
| Zdroj: | European journal of human genetics : EJHG. 18(11) |
| ISSN: | 1476-5438 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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