Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

Abstract

PCH1 is a major cause of SMN-negative spinal muscular atrophy (SMA) and EXOSC3 mutations are the most common cause of PCH1. High prevalence of the p.G31A mutation of EXOSC3 gene was found recently, especially in the Roma ethnic minority.