分子与遗传医学

aCGH may be useful in Case of Dominant Disorders Known to be Caused by Gene Mutations: Two Case Reports

Abstract

Sylvie Bourthoumieu, Cécile Laroche, Aziza Lebbar, Jean-Michel Dupont and Catherine Yardin

We describe two cases where clinical diagnoses were carried out (Rett syndrome-like and Nicolaides-Baraitser syndrome) with no identified mutation respectively in the CDKL5 and the SMARCA2 genes. Conversely a chromosomal microdeletion with contiguous deletion of a part of these two genes was found by arrayCGH in each corresponding case. The aim of this report is then to highlight the possible implication of chromosomal microdeletions with contiguous gene deletions in dominant pathologies where no mutation is found in the causative gene.