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dc.contributor.authorZufferey, Flore
dc.contributor.authorSherr, Elliott H
dc.contributor.authorBeckmann, Noam D
dc.contributor.authorHanson, Ellen M.
dc.contributor.authorMaillard, Anne M
dc.contributor.authorHippolyte, Loyse
dc.contributor.authorMacé, Aurélien
dc.contributor.authorFerrari, Carina
dc.contributor.authorKutalik, Zoltán
dc.contributor.authorAndrieux, Joris
dc.contributor.authorAylward, Elizabeth
dc.contributor.authorBarker, Mandy
dc.contributor.authorBernier, Raphael
dc.contributor.authorBouquillon, Sonia
dc.contributor.authorConus, Philippe
dc.contributor.authorDelobel, Bruno
dc.contributor.authorFaucett, W Andrew
dc.contributor.authorGoin-Kochel, Robin P
dc.contributor.authorGrant, Ellen
dc.contributor.authorHarewood, Louise
dc.contributor.authorHunter, Jill V
dc.contributor.authorLebon, Sébastien
dc.contributor.authorLedbetter, David H
dc.contributor.authorMartin, Christa Lese
dc.contributor.authorMännik, Katrin
dc.contributor.authorMartinet, Danielle
dc.contributor.authorMukherjee, Pratik
dc.contributor.authorRamocki, Melissa B
dc.contributor.authorSpence, Sarah J
dc.contributor.authorSteinman, Kyle J
dc.contributor.authorTjernagel, Jennifer
dc.contributor.authorSpiro, John E
dc.contributor.authorReymond, Alexandre
dc.contributor.authorBeckmann, Jacques S
dc.contributor.authorChung, Wendy K
dc.contributor.authorJacquemont, Sébastien
dc.date.accessioned2013-04-26T18:55:57Z
dc.date.issued2012
dc.identifier.citationZufferey, Flore, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, et al. 2012. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics 49(10): 660-668.en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10589806
dc.description.abstractBackground: The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. Methods: We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. Results: When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations. Conclusions: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases.en_US
dc.language.isoen_USen_US
dc.publisherBMJ Publishing Groupen_US
dc.relation.isversionofdoi:10.1136/jmedgenet-2012-101203en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494011/pdf/en_US
dash.licenseLAA
dc.subjectClinical geneticsen_US
dc.subjectObesityen_US
dc.subjectPsychiatryen_US
dc.subjectComplex traitsen_US
dc.titleA 600 kb Deletion Syndrome at 16p11.2 Leads to Energy Imbalance and Neuropsychiatric Disordersen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalJournal of Medical Geneticsen_US
dash.depositing.authorHanson, Ellen M.
dc.date.available2013-04-26T18:55:57Z
dc.identifier.doi10.1136/jmedgenet-2012-101203*
dash.authorsorderedfalse
dash.contributor.affiliatedSpence, Sarah
dash.contributor.affiliatedHanson, Ellen


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