title: Screening of UBE3A gene in patients referred for Angelman Syndrome.
abstract: 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.
authors: Department of Medical Genetics, University of Athens School of Medicine, Choremeio Research Laboratory, Aghia Sophia Children's Hospital, Thivon and Levadeias str, 11527 Goudi, Athens, Greece. evmorfia.tzagkaraki@hotmail.com
authors: Evmorfia
authors: E
authors: Tzagkaraki
authors: Christalena
authors: C
authors: Sofocleous
authors: Helen
authors: H
authors: Fryssira-Kanioura
authors: Fryssira-Kanioura
authors: FK
authors: Helen
authors: Argyris
authors: A
authors: Dinopoulos
authors: Georgios
authors: G
authors: Goulielmos
authors: Ariadni
authors: A
authors: Mavrou
authors: Sofia
authors: S
authors: Kitsiou-Tzeli
authors: Kitsiou-Tzeli
authors: KT
authors: Sofia
authors: Emmanuel
authors: E
authors: Kanavakis
mesh_terms: D000293:Adolescent; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases