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FOXP1-related intellectual disability syndrome: a recognisable entity
I. Meerschaut, D. Rochefort, N. Revençu, J. Pètre, C. Corsello, GA. Rouleau, FF. Hamdan, JL. Michaud, J. Morton, J. Radley, N. Ragge, S. García-Miñaúr, P. Lapunzina, MP. Bralo, MÁ. Mori, S. Moortgat, V. Benoit, S. Mary, N. Bockaert, A. Oostra, O....
Language English Country England, Great Britain
Document type Journal Article
NLK
ProQuest Central
from 1994-01-01 to 6 months ago
Health & Medicine (ProQuest)
from 1994-01-01 to 6 months ago
- MeSH
- Phenotype MeSH
- Forkhead Transcription Factors chemistry genetics metabolism MeSH
- Transcription, Genetic MeSH
- Language Disorders genetics MeSH
- Humans MeSH
- Intellectual Disability genetics MeSH
- Mutation, Missense MeSH
- Mutation MeSH
- Neurodevelopmental Disorders genetics MeSH
- Face abnormalities MeSH
- Autism Spectrum Disorder genetics MeSH
- Motor Skills Disorders genetics MeSH
- Repressor Proteins chemistry genetics metabolism MeSH
- Protein Stability MeSH
- Syndrome MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. RESULTS: Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. CONCLUSIONS: FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.
Beyster Center for Genomics of Psychiatric Diseases University of California San Diego USA
Center for Medical Genetics Ghent University Hospital Ghent Belgium
Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium
Centre for Human Genetics University Hospital Leuven Leuven Belgium
CHU Sainte Justine Research Center Université de Montreal Montreal Canada
Department of Neurology Pediatric Neurology Antwerp University Hospital Edegem Belgium
Department of Pediatric Nephrology University Hospital Leuven Leuven Belgium
Department of Pediatrics and Child Neuropsychiatry La Sapienza University Rome Italy
Department of Pediatrics Ghent University Hospital Ghent Belgium
Departments of Medicine and Neurosciences UC San Diego School of Medicine San Diego USA
Genetic Health Service NZ Wellington New Zealand
Institut de Génétique Médicale Hospital Jeanne de Flandre Lille France
Institut für Klinische Genetik Technische Universität Dresden Dresden Deutschland
Laboratory of Medical Genetics Bambino Gesù Children's Hospital IRCCS Rome Italy
Montreal Neurological Institute McGill University Montreal Canada
NYS Institute for Basic Research in Developmental Disabilities Staten Island New York USA
Sheffield Clinical Genetics Service Sheffield Children's Hospital Sheffield UK
References provided by Crossref.org
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