Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
| Autor: | Sau Wai Cheung, Katia Rocchetti, Chiara Pantaleoni, Pawel Stankiewicz, Maria Clara Bonaglia, Roberto Ciccone, Stefano D'Arrigo, Jeffrey R Hughes, Mary Bertrand, Thomy de Ravel, Nicola Brunetti-Pierri, Erika Della Mina, Christian P. Schaaf, Zhilian Xia, Naftha Jelluma, Orsetta Zuffardi, Renato Borgatti, Claudia A. L. Ruivenkamp, Parul Jayakar, Serena Belli, Alex R. Paciorkowski, V. Reid Sutton |
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| Přispěvatelé: | Clinical sciences, Medical Genetics, BRUNETTI PIERRI, Nicola, Paciorkowski, Ar, Ciccone, R, Mina, Ed, Bonaglia, Mc, Borgatti, R, Schaaf, Cp, Sutton, Vr, Xia, Z, Jelluma, N, Ruivenkamp, C, Bertrand, M, de Ravel, Tj, Jayakar, P, Belli, S, Rocchetti, K, Pantaleoni, C, D'Arrigo, S, Hughes, J, Cheung, Sw, Zuffardi, O, Stankiewicz, P. |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Child preschool comparative genomic hybridization Rett syndrome Biology Article Epilepsy/genetics Epilepsy Chromosomes Human Pair 14/genetics Gene Duplication Intellectual disability Gene duplication Genetics medicine Humans Nerve Tissue Proteins/genetics Forkhead Transcription Factors/genetics Genetics (clinical) Oligonucleotide Array Sequence Analysis Infant medicine.disease Hypotonia Intellectual Disability/genetics FOXG1 Language Development Disorders/genetics Speech delay Female medicine.symptom FOXG1 developmental delay speech delay infantile spasms array CGH rett-syndrome copy number deletion family males haploinsufficiency microduplication microarray features patient Haploinsufficiency Developmental Disabilities/genetics |
| Zdroj: | European Journal of Human Genetics, 19(1), 102-107 |
| Popis: | Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel microdeletion and microduplication syndromes. We have identified seven individuals with duplication on chromosome 14q11.2q13.1, who exhibited idiopathic developmental delay and cognitive impairment, severe speech delay, and developmental epilepsy. Among these cases, the minimal common duplicated region on chromosome 14q11.2q13.1 includes only three genes, FOXG1, C14orf23, and PRKD1. We propose that increased dosage of Forkhead Box G1 (FOXG1) is the best candidate to explain the abnormal neurodevelopmental phenotypes observed in our patients. Deletions and inactivating mutations of FOXG1 have been associated with a Rett-like syndrome characterized by hypotonia, irritability, developmental delay, hand stereotypies, and deceleration of head growth. FOXG1, encoding a brain-specific transcription factor, has an important role in the developing brain. In fact, in vivo studies in chicken brain demonstrated that overexpression of FOXG1 results in thickening of the neuroepithelium and outgrowth of the telencephalon and mesencephalum, secondary to a reduction in neuroepithelial cell apoptosis. European Journal of Human Genetics (2011) 19, 102-107; doi:10.1038/ejhg.2010.142; published online 25 August 2010 |
| Databáze: | OpenAIRE |
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