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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

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  • Kate Wolfe
  • Andrew McQuillin
  • Viola Alesi
  • Elise Boudry Labis
  • Peter Cutajar
  • Bruno Dallapiccola
  • Maria Lisa Dentici
  • Anne Dieux-Coeslier
  • Benedicte Duban-Bedu
  • Tina Duelund Hjortshøj
  • Himanshu Goel
  • Sara Loddo
  • Deborah Morrogh
  • Anne-Laure Mosca-Boidron
  • Antonio Novelli
  • Laurence Olivier-Faivre
  • Jennifer Parker
  • Michael J Parker
  • Christine Patch
  • Anna L Pelling
  • Thomas Smol
  • Zeynep Tümer
  • Olivier Vanakker
  • Arie van Haeringen
  • Clémence Vanlerberghe
  • Andre Strydom
  • David Skuse
  • Nick Bass
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Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.

Original languageEnglish
JournalAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Volume177/4
Pages (from-to)397-405
ISSN1552-4841
DOIs
Publication statusPublished - Jun 2018

    Research areas

  • Journal Article

ID: 53543726