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J Pediatr Genet 2017; 06(01): 003-017
DOI: 10.1055/s-0036-1593840
Review Article
Georg Thieme Verlag KG Stuttgart · New York

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders

Daria Grafodatskaya
1   Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
,
Sanaa Choufani
2   Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
,
Raveen Basran
3   Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada
4   Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
,
Rosanna Weksberg
2   Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
5   Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
6   Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada
7   Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
8   Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
› Author Affiliations
Further Information

Publication History

11 August 2015

16 May 2016

Publication Date:
10 November 2016 (online)

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Abstract

Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article.

Keywords

genomic imprinting - epigenetics - DNA methylation
 

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