Journal article
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson, C van Ravenswaaij-Arts, Z Stark, T Dijkhuizen, E Gerkes, S Gimelli, D Ganesamoorthy, AC Thuresson, A Labalme, M Till, F Bilan, L Pasquier, A Kitzis, C Dubourgm, M Rossi, A Bottani, M Gagnebin, D Sanlaville Show all
American Journal of Medical Genetics Part B Neuropsychiatric Genetics | Published : 2013
DOI: 10.1002/ajmg.b.32148
Abstract
This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotoni..
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Funding Acknowledgements
Grant sponsor: Victorian Government's Operational Infrastructure Support; Grant sponsor: DHOS (Direction de l'Hospitalisation et de l'Organisation des Soins); Grant sponsor: University Hospital of Geneva, Swedish Research Council; Grant sponsor: Karolinska Institutet; Grant sponsor: University of Lausanne.