An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.
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.
Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Daria
D
Grafodatskaya
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sanaa
S
Choufani
Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Raveen
R
Basran
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Rosanna
R
Weksberg
DNA methylation; epigenetics; genomic imprinting