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A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

Journal of human genetics - 1 Feb 2024

Zaki Maha S, Abdel-Ghafar Sherif F, Abdel-Hamid Mohamed S

Abstract excerpt

Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and is currently classified into 17 types (PCH1-PCH17). PCH1 is distinguishable from other types by the association of spinal motor neuron dysfunction. Based on the underlying genetic etiology, PCH1 is further classified into 6 different subtypes (PCH1 A-F). Of them, PCH type 1C is caused by...

Topics

Male
Humans
Mutation
Cerebellar Diseases
Cerebellum
Exons
RNA-Binding Proteins
Exosome Multienzyme Ribonuclease Complex

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38017281
DOI: 10.1038/s10038-023-01207-4
PMCID: PMC10810757

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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