Syndroms with Genomic Imprinting Manifestations

Overview

Genomic imprinting is one of epigenetic factors, which influences expression of genes. It represents specific markingof some chromosome segments depending on the parental origin of the mutation. Imprinted genes are for some timeinactive; such period varies in different developmental stage and in different tissues. Such inactivation is manifestedas expriming genes and represents an exception to the 3rd Mendel’s rule. In the last 10 years, a large group of disorderswas recognised, the clinical manifestation of which depends on the parental origin of the mutation, such as Albright’shereditary osteodystrophy, progressive osseous hyperplasia, Curschmann-Steinert myotonic dystrophy, Huntingtondisease, Beckwith-Wiedemann EMG syndrome, Silver-Russell syndrome, Angelman syndrome, Prader-Willi syndrome.Genomic imprinting contributes to the clarification of mechanisms of the variable expressivity, incompletepenetration, generation anticipation etc.

Key words:
genomic imprinting, expriming genes, parental origin of the mutation.