This Month in Genetics

A hallmark of Russell-Silver syndrome (RSS) is the small size of affected individuals. Growth retardation is evident prenatally and continues after birth. One of the genes misregulated in RSS is IGF2, an imprinted gene that encodes insulin-like growth factor II. Although believed to be central to the small size of individuals with this syndrome, Mendelian mutations in this gene have not been described to confirm this prediction—that is, until the recent paper by Begemann et al., who identified related individuals who appeared to have RSS but in whom RSS genetic testing was negative.

Source: The American Journal of Human Genetics - September 3, 2015 Category: Genetics & Stem Cells Authors: Kathryn B. Garber Tags: Editors’ Corner Source Type: research