Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.

Abstract excerpt

Pontocerebellar hypoplasia type 1B (PCH1B) describes an autosomal recessive neurological condition that involves hypoplasia or atrophy of the cerebellum and pons, resulting in neurocognitive impairments. Although there is phenotypic variability, this is often an infantile lethal condition, and most cases have been described to be congenital and neurodegenerative. PCH1B is caused by mutations in the gene EXOSC3,...

Topics

• Adolescent
• Cerebellar Diseases
• Exosome Multienzyme Ribonuclease Complex
• Female
• Genetic Markers
• Heterozygote
• Humans
• Mutation
• Pedigree
• Phenotype
• RNA-Binding Proteins