European Journal of Pediatrics

, Volume 174, Issue 1, pp 75–83

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

  • Charles Coutton
  • Klaus Dieterich
  • Véronique Satre
  • Gaëlle Vieville
  • Florence Amblard
  • Marie David
  • Christine Cans
  • Pierre-Simon Jouk
  • Francoise Devillard
Original Article

DOI: 10.1007/s00431-014-2367-6

Cite this article as:
Coutton, C., Dieterich, K., Satre, V. et al. Eur J Pediatr (2015) 174: 75. doi:10.1007/s00431-014-2367-6

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 

Abbreviations

AAIDD

American Association on Intellectual and Developmental Disabilities

AGTR2

Angiotensin II receptor, type 2

ARHGAP24

Rho GTPase activating protein 24

CDH13

Cadherin 13

CGH

Comparative genomic hybridization

CNV

Copy number variations

DECIPHER

Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

DGV

Database of genomic variants

EEG

Electroencephalogram

FISH

Fluorescence in situ hybridization

GPR87

G protein-coupled receptor 87

HEPACAM

Hepatic and glial cell adhesion molecule

ID

Intellectual disability

IQ

Intelligence quotient

K-ABC

Kaufman Assessment Battery for Children

MDPH

Maison Départementale des Personnes Handicapées

MED12L

Mediator complex subunit 12-like

MED12

Mediator complex subunit 12

MED13

Mediator complex subunit 13

MED13L

Mediator complex subunit 13-like

MED17

Mediator complex subunit 17

MED23

Mediator complex subunit 23

MLPA

Multiplex ligation-dependent probe amplification

NCBI

National center for biotechnology information

OCRL

Oculocerebrorenal syndrome of Lowe

OMIM

Online Mendelian Inheritance in Man

P2RY

Purinergic receptor P2Y

P2RY12

Purinergic receptor P2Y, G-protein coupled, 12

P2RY13

Purinergic receptor P2Y, G-protein coupled, 13

P2RY14

Purinergic receptor P2Y, G-protein coupled, 114

RHEOP

Registre du Handicap Et Observatoire Périnatal

TMEM130

Transmembrane protein 130

TRRAP

Transformation/transcription domain-associated protein

UCSC

University of California, Santa Cruz

VUS

Variant of unknown significance

WISC

Wechsler Intelligence Scale for Children

WPPSI-R

Wechsler Preschool and Primary Scale of Intelligence Revised

Supplementary material

431_2014_2367_MOESM1_ESM.docx (19 kb)
Supplementary Table 1(DOCX 19.1 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Charles Coutton
    • 1
    • 2
    • 7
  • Klaus Dieterich
    • 3
    • 5
  • Véronique Satre
    • 1
    • 2
  • Gaëlle Vieville
    • 1
  • Florence Amblard
    • 1
  • Marie David
    • 4
  • Christine Cans
    • 6
  • Pierre-Simon Jouk
    • 3
  • Francoise Devillard
    • 1
  1. 1.Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple EnfantCHU GrenobleGrenobleFrance
  2. 2.AGIM CNRS FRE3405, Equipe “Andrologie, Génétique et Cancer”Université Joseph FourierGrenobleFrance
  3. 3.Service de Génétique Clinique, Département de Génétique et Procréation, Hôpital Couple EnfantCHU GrenobleGrenobleFrance
  4. 4.RHEOPGrenobleFrance
  5. 5.Inserm U836, Equipe 4, Grenoble Institut des NeurosciencesUniversité Joseph FourierGrenobleFrance
  6. 6.Exploitation Units of Medical InformationGrenoble University HospitalGrenobleFrance
  7. 7.Service de Génétique Chromosomique, Hôpital Couple-EnfantCHU de GrenobleGrenoble Cedex 9France

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