Beckwith Weidemann syndrome: a behavioural phenotype genotype study

Lindsey Kent, S Bowdin, GA Kirby, WN Cooper, ER Maher

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52 Citations (Scopus)

Abstract

Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neuro-development processes. Beckwith-Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS. (C) 2008 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)1295-1297
Number of pages3
JournalAmerican Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Volume147B
Early online date3 Mar 2008
DOIs
Publication statusPublished - 5 Oct 2008

Keywords

  • imprinting disorders
  • 11p15.5
  • psychopathology
  • behavioral genetics
  • WIEDEMANN-SYNDROME
  • AUTISM SPECTRUM
  • PRADER-WILLI
  • ANGELMAN-SYNDROMES
  • DISORDERS
  • MUTATIONS
  • GENE
  • CHILDREN

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