Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

ABSTRACT:

Objectives

Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation.

Methods

We documented clinical, neuroimaging, and morphologic data of 37 subjects from 27 families with PCH1. EXOSC3 gene sequencing was performed in 27 unrelated index patients of mixed ethnicity.

Results

Biallelic mutations

SUBMITTER: Rudnik-Schoneborn S 

PROVIDER: S-EPMC3590055 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature