A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Conclusion
Only six cases have been reported with deletions involving exclusively IC2, one being identical to our proband’s 132 bp deletion. Our study, which is based on more extensive segregation data than the previous 132 bp deletion report, confirms the association of this deletion with growth restriction when paternally inherited. Remarkably, even though our patient has the same deletion, he has more pronounced phenotypic features; our findings thus suggest that some degree of clinical variability may be associated with this loss.

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Gaudet, M. V., Allain, E. P., Gallant, L. M., Arts, H. H., Ben Amor, M. Tags: Open access Epigenetics Source Type: research