CDKL5 Variant

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Variant ID: cm35
Systematic name: c.175C>T
Protein name: p.Arg59*
Alternate name(s): p.R59X
Mutation type: nonsense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs62653623

First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748

Comments: in vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.175C>T p.Arg59* Not Rett syndrome - epileptic encephalopathy Female 16611748, Archer et al (2006) cp48
c.175C>T p.Arg59* Rett syndrome - atypical Female 19740913, Ricciardi et al (2009) cp107
c.175C>T p.Arg59* Rett syndrome - early-onset seizures Female 20493745, Castren et al (2011) cp195
c.175C>T p.Arg59* Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp413
c.175C>T p.Arg59* Rett syndrome - atypical Female 22678952, Bahi-Buisson et al (2012) cp456

Displaying a total number of 5 proband entries matching this variant.