Early onset dystonia
Gene: CSTB
Biallelic mutations can cause an early onset neurodegenerative disorder characterized by myoclonus, epilepsy, ataxia which could be in differential with some dystonia genes. Also severe dyskinesia has been described (26843564). 90% of the pathogenic alleles consist of a 12bp repeat expansion, but missense mutations have also been described, normally would be compound heterozygous with the repeat expansionCreated: 27 Mar 2017, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564)
Publications
Comment on mode of pathogenicity: Nucleotide repeat expansion in some cases. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 2:05 p.m.
Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
This gene has been classified as Green List (High Evidence).
CSTB was created by arianna
CSTB was added to Early onset dystoniapanel. Sources: Expert Review