Condition: Pontocerebellar Hypoplasia Type 2A


rs113994152 in TSEN54 gene and Pontocerebellar Hypoplasia Type 2A PMID 29410950 2018 TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.

PMID 23307886 2014 Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

PMID 24886362 2014 Natural course of pontocerebellar hypoplasia type 2A.

PMID 23177318 2013 Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

PMID 21368912 2011 TSEN54 mutations cause pontocerebellar hypoplasia type 5.

PMID 18711368 2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

PMID 20803644 2010 Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

PMID 27570394 2016 The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation.