Original Article

European Journal of Pediatrics

, Volume 174, Issue 1, pp 75-83

Array-CGH in children with mild intellectual disability: a population-based study

  • Charles CouttonAffiliated withLaboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU GrenobleAGIM CNRS FRE3405, Equipe “Andrologie, Génétique et Cancer”, Université Joseph FourierService de Génétique Chromosomique, Hôpital Couple-Enfant, CHU de Grenoble Email author 
  • , Klaus DieterichAffiliated withService de Génétique Clinique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU GrenobleInserm U836, Equipe 4, Grenoble Institut des Neurosciences, Université Joseph Fourier
  • , Véronique SatreAffiliated withLaboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU GrenobleAGIM CNRS FRE3405, Equipe “Andrologie, Génétique et Cancer”, Université Joseph Fourier
  • , Gaëlle VievilleAffiliated withLaboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble
  • , Florence AmblardAffiliated withLaboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble
  • , Marie DavidAffiliated withRHEOP
  • , Christine CansAffiliated withExploitation Units of Medical Information, Grenoble University Hospital
  • , Pierre-Simon JoukAffiliated withService de Génétique Clinique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble
  • , Francoise DevillardAffiliated withLaboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

Intellectual disability (ID) is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of ID originate from chromosomal imbalances. During the last years, array-CGH has successfully contributed to improve the diagnostic detection rate of genetic abnormalities in patients with ID. Most array-CGH studies focused on patients with moderate or severe intellectual disability. Studies on genetic etiology in children with mild intellectual disability (ID) are very rare. We performed array-CGH analysis in 66 children with mild intellectual disability assessed in a population-based study and for whom no genetic etiology was identified. We found one or more copy number variations (CNVs) in 20 out of 66 (~30 %) patients with a mild ID. In eight of them (~12 %), the CNVs were certainly responsible for the phenotype and in six they were potentially pathogenic for ID. Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %). Conclusion: Our results underscore the clinical relevance of array-CGH to investigate the etiology of isolated idiopathic mild ID in patients or associated with even subtle dysmorphic features or congenital malformations.

Keywords

Chromosomal microarray Array-CGH Mild intellectual disability Developmental delay