Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
| العنوان: | Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment |
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| المؤلفون: | 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 |
| المساهمون: | 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. |
| المصدر: | European Journal of Human Genetics, 19(1), 102-107 |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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 |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200fbc29c64dcd4037a7753420903068Test https://hdl.handle.net/1887/108675Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....200fbc29c64dcd4037a7753420903068 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |