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Identifier

000388591

Title

Μοριακή μελέτη ασθενών με σύνδρομο angelman.Συσχέτιση φαινοτύπου-γονοτύπου

Alternative Title

Molecular investigation of angelman syndrome patients genotype phenotype correlation

Συσχέτιση φαινοτύπου-γονοτύπου

Author

Τζαγκαράκη, Ευμορφία Γ

Thesis advisor

Γουλιέλμος, Γεώργιος
Καναβάκης, Εμμανουήλ
Καλπίνη-Μαύρου, Αριάδνη

Reviewer

Παπαδάκη, Ελένη
Καρδάσης, Δημήτριος
Ηλιόπουλος, Αριστείδης
Μαντζουράνη, Ευαγγελία

Abstract

Angelman Syndrome is a neurodevelopmental disorder with a complex phenotype caused by deficiency of maternal UBE3A gene expression on the imprinted Prader Willi/ Angelman syndrome critical region which results from chromosomal deletions, uniparental disomy and imprinting defects of the 15q11-q13 region in 70- 80% of patients. Loss of function mutations in maternally inherited UBE3A is the genetic cause of the disease in 5- 10% of patients. In the present study, molecular analysis of the UBE3A gene in 43 Greek Angelman syndrome patients revealed two pathological mutations- one of them novel - and four sequence changes considered as polymorphic variants- one of them novel alteration. The two pathological mutations were revealed in patients with typical electroencephalography pattern and microcephaly. ECMA assay (Enzymatic Cleavage Mismatch Analysis) has been applied for the first time as a screening method for molecular analysis of UBE3A gene and it has been evaluated for its sensitivity and reliability. Although the number of UBE3A mutations reported in the literature is increasing, mental retardation phenotypes are complex, suggesting additional mutation analysis of other genes (e.g. MECP2 and CDKL5), or genome wide screening methods (such as array- CGH), especially in atypical cases.

Language

English

Subject

Mutation analysis

UBE3A genes

Γονίδιο UBE3A

Μέθοδος ECMA

Μεταλλάξεις

Σύνδρομο angelman

Issue date

2013-07-16

Collection