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

作者：Coutton Charles^*; Dieterich Klaus; Satre Veronique; Vieville Gaelle; Amblard Florence; David Marie; Cans Christine; Jouk Pierre Simon; Devillard Francoise

来源：European Journal of Pediatrics, 2015, 174(1): 75-83.

DOI：10.1007/s00431-014-2367-6

• Chromosomal microarray
• Array-CGH
• Mild intellectual disability
• Developmental delay

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 (similar to 30%) patients with a mild ID. In eight of them (similar to 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 (similar to 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.

• 出版日期2015-1