Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease 17p11.2 duplication

Abstract

Charcot-Marie-Tooth disease (CMT) is one of the most frequent neurodegenerative disorder with a prevalence of 1 cases per 2500. CMT1 is the most common subtype of CMT, accounting for 70-80% of all cases. In the majority of cases CMT1A caused by 1.5 Mb duplication in the 17p11.2, including the peripheral myelin protein 22 ( PMP22 ) gene. Preimplantation genetic diagnosis (PGD) for this pathogenic genetic variant is a powerful tool for disease prevention. Previously, a test system for PGD CMT1A was performed by 1-5 polymorphic loci. However, the analysis of 1-5 markers with incomplete informativity cannot be considered as highly reliable under PGD conditions. This paper reports on the PGD for CMT1A in three couples using a test system with 27 polymorphic markers. The presented test system provides accurate and reliable results in the PGD for the 17p11.2 duplication and point mutations in PMP22 gene.