Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • 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
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Vol/bind177/4
Sider (fra-til)397-405
ISSN1552-4841
DOI
StatusUdgivet - jun. 2018

ID: 53543726