Alen Kapel
Faculty of health and social sciences Slovenj Gradec and Modus Medical, SloveniaTitle: From Genes to Phenotypes: Exploring the Pathogenesis of the overlapping spectrum of Rett and Angelman Syndrome
Abstract
Rett syndrome (RTT) and
Angelman syndrome (AS) are rare genetic neurodevelopmental disorders with
severe phenotypes and early manifestation onset. RTT is identified between the
age of 6 -12 months, and is caused by an impairment of the methyl CpG binding
protein 2. AS has no visible symptomatology before 6-18 months of age and is
caused by a genetic mutation on chromosome 15 that affects the function of the
UBE3A gene. Both syndroms leade so severe impairments in all areas of
individuals’ life. RTT mostly occurs in females, whereas AS is presented in
both genders. Despite the difference within the gender prevalence and the
genetic mutation, both RTT and AS can overlap in rare cases. This condition is
introduced as the overlapping spectrum of RTT and AS.
Biography
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