CDKL5 Proband Entry



Entry ID: cp195

Systematic name: c.175C>T

Protein name: p.Arg59*

Alternate name(s): p.R59X

Mutation type: nonsense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: not known, not known

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62653623

Source: Castren, M., Gaily, E., Tnstrom, C., Lahdetie, J., Archer, H., Ala-Mello, S. (2011) Epilepsy caused by CDKL5 mutations. European Journal of Paediatric Neurology 15:65-69. Pubmed ID: 20493745

Publication ID: Case 1

Comments:

Entry last updated on: 2014-03-13 06:10:03

Similar 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* 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 4 proband entries.