3 research outputs found
Screening of UBE3A gene in patients referred for Angelman Syndrome (vol 17, Pg 366, 2013)
Screening of UBE3A gene in patients referred for Angelman Syndrome
Angelman Syndrome (AS) is a neurodevelopmental disorder characterized by
severe developmental delay, speech impairment and unique behaviors
including inappropriate laughter and happy disposition. AS is related to
deficient maternal UBE3A gene expression caused either by chromosomal
deletions, uniparental disomy, molecular defects of the imprinted
15q11-q13 critical region or by loss of function mutations in the
maternally inherited UBE3A. In the present study, screening UBE3A was
performed in 43 patients who were referred for AS but whom previous
molecular diagnostic tests failed to provide a diagnosis. Two causative
mutations one of them novel and four polymorphic variants one of which
is also novel were revealed. Further investigation of 7 patients
disclosed defects in other genes involved in clinical phenotypes
mimicking AS. A typical EEG pattern and microcephaly in patients with
developmental delay prompt for AS investigation while wide genetic
screening should be applied to help resolution of the complex phenotypes
characterized by developmental delay. (C) 2013 European Paediatric
Neurology Society. Published by Elsevier Ltd. All rights reserved