Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

ConclusionThis study describes the first case of GSDIII resulting from UPD1. UPD can play an important role even in case of imprinted genes.DIRAS3is a maternally imprinted tumor suppressor gene, located on chromosome 1p31, and implicated in growth and oncogenesis. It can be speculated thatDIRAS3 overexpression might have a role in the severe short stature of our patient. The study emphasizes the importance of parental segregation analysis especially in patients with recessive conditions to look for specific genetic causes of disease and to estimate properly the risk of family recurrence.

Source: Molecular Genetics & Genomic Medicine - March 26, 2019 Category: Genetics & Stem Cells Authors: Emanuela Ponzi, Viola Alesi, Francesca R. Lepri, Silvia Genovese, Sara Loddo, Mafalda Mucciolo, Antonio Novelli, Carlo Dionisi ‐Vici, Arianna Maiorana Tags: CLINICAL REPORT Source Type: research