CDKL5 Proband Entry



Entry ID: cp48

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: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: lymphocyte

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62653623

Source: 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

Publication ID: patient 6

Comments:

Entry last updated on: 2014-03-13 06:05:23

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
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 4 proband entries.