Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

We reported on two patients including the first prenatal case described so far, carrying a 2p15 deletion affecting two genes: XPO1 and part of USP34. Both patients shared similar features including facial dysmorphism and cerebral abnormalities. We considered the genes involved in the deleted segment to further understand the abnormal phenotype. The third case we described here was a 4‐year‐old boy with a heterozygous de novo 427 kb deletion encompassing BCL11A and PAPOLG at 2p16.1. He displayed speech delay, autistic traits, and motor stereotypies associated with brain structure abnormalities. We discuss the contribution of the genes included in the deletion to the abnormal phenotype. Our three new patients compared to previous cases, highlighted that despite two critical regions, both distal deletion at 2p16.1 and proximal deletion at 2p15 are associated with phenotypes that are very close to each other. Finally, we also discuss the genetic counseling of this microdeletion syndrome particularly in the course of prenatal diagnosis.

Source: American Journal of Medical Genetics Part A - June 1, 2017 Category: Genetics & Stem Cells Authors: Jonathan L évy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, Yline Capri, Séverine Drunat, Alain Verloes, Eva Pipiras, Brigitte Benzacken, Jean‐Michel Dupont, Anne‐Claude Tabet Tags: ORIGINAL ARTICLE Source Type: research