Autism, language delay and mental retardation in a patient with 7q11 duplication
| Autor: | Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Eric LeGuern, Marion Leboyer, Baya Benyahia, Alain Verloes, Alexis Brice, Delphine Héron, Catalina Betancur |
|---|---|
| Přispěvatelé: | Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurobiologie et Psychiatrie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by Fondation de France, Fondation pour la Recherche Médicale, Fondation France Télécom, INSERM and Assistance Publique-Hôpitaux de Paris., Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7) |
| Rok vydání: | 2007 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Language delay autism Neurological disorder Biology mental retardation Article 03 medical and health sciences 0302 clinical medicine Gene duplication Intellectual disability Genetics medicine Mild dysmorphism language delay Genetics (clinical) 030304 developmental biology [SDV.GEN]Life Sciences [q-bio]/Genetics 0303 health sciences business.industry 030305 genetics & heredity General Medicine Interstitial duplication Nucleic acid amplification technique Microdeletion syndrome medicine.disease 7q11 Developmental disorder duplication Male patient Microsatellite Analysis Autism business Letter to JMG 030217 neurology & neurosurgery |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩ Journal of Medical Genetics, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩ |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmg.2006.047092 |
| Popis: | International audience; BACKGROUND: Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date: one with severe language delay and the three others with variable developmental, psychomotor and language delay. OBJECTIVE AND METHODS: In this study, we screened 206 patients with autism spectrum disorders for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. RESULTS: We identified one male patient with a de novo interstitial duplication of the entire WBCR of paternal origin. The patient had autistic disorder, severe language delay and mental retardation, with very mild dysmorphic features. CONCLUSION: We report the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism, and extends the phenotype initially reported. These findings also support the existence of one or several genes in 7q11.23 sensitive to gene dosage and involved in the development of language and social interaction. |
| Databáze: | OpenAIRE |
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