Clinical features
The phenotype of PCH1B varies depending on the specific pathogenic variant in the EXOSC3gene of an individual. It is typically characterized as a congenital and neurodegenerative disorder, often resulting in a lethal infantile condition. However, more recent research has found that in some cases, children with milder symptoms can grow and live well beyond infancy, even into adulthood. Some of the main features include ataxia – difficulty with balance, walking, speech, and fine motor skills.
Prevalence
Due to the rarity of the disorder the overall population prevalence remains undetermined. However, EXOSC3-related PCH has been reported in over 82 individuals across 58 families in the medical literature.
Inheritance
PCH1B, caused by biallelic mutations of the EXOSC3gene, is inherited in an autosomal recessive manner.
EXOSC3