Beckwith Weidemann Syndrome: A Behavioral Phenotype-Genotype Study

Research output: Contribution to journalArticle

Authors

Colleges, School and Institutes

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.

Details

Original languageEnglish
Pages (from-to)1295-1297
Number of pages3
JournalAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume147B
Issue number7
Publication statusPublished - 1 Oct 2008

Keywords

  • behavioral genetics, psychopathology, imprinting disorders, 11p15.5