Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

ABSTRACT:

Background

Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH lack sufficient information, which highlights the importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical features of these disorders. The aim of this study is to provide an in-depth review of PCH and to identify disease genes and their inheritance patterns in 12 distinct Iranian families with clinically confirmed PCH.

Methods

Cases included in this study were selected based on their phenotypic and genetic information available at the Center for Comprehensive Genetic Services.

SUBMITTER: Ghasemi MR 

PROVIDER: S-EPMC10863249 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature