Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience

Georgieva B.; Atemin S.; Todorova A.; Todorov T.; Miteva A.; Avdjieva-Tzavella D.; Mitev V.

doi:10.2478/amb-2020-0002

Acta Medica Bulgarica (May 2020)

Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience

Georgieva B.,
Atemin S.,
Todorova A.,
Todorov T.,
Miteva A.,
Avdjieva-Tzavella D.,
Mitev V.

Affiliations

Georgieva B.: Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria
Atemin S.: Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria
Todorova A.: Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria
Todorov T.: AND Genetic Medico-Diagnostic Laboratory “Genica” – Sofia, Bulgaria
Miteva A.: Department of Medical Ethics and Law, Faculty of Public Health, Medical University – Sofia, Bulgaria
Avdjieva-Tzavella D.: Children’s Hospital “Prof. Ivan Mitev MD”, Department of Endocrinological and Genetic Diseases, Medical Faculty, Medical University – Sofia, Bulgaria
Mitev V.: Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria

DOI: https://doi.org/10.2478/amb-2020-0002
Journal volume & issue: Vol. 47, no. 1
pp. 9 – 16

Abstract

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Objective: The aim of the study was to determine the molecular mechanisms of mutagenesis in Bulgarian patients with Angelman syndrome (AS). AS is a severe neurodevelopmental disorder caused by loss of expression in brain of the maternally inherited UBE3A gene as a result of various 15q11.2-q13 alterations.

Published in Acta Medica Bulgarica

ISSN: 0324-1750 (Print); 2719-5384 (Online)
Publisher: Sciendo
Country of publisher: Poland
LCC subjects: Medicine
Website: https://sciendo.com/journal/AMB

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Abstract

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