CDKL5 Proband Entry



Entry ID: cp456

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 - atypical

Other mutation:

X-inactivation results: Yes - 51:49

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62653623

Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952

Publication ID: Patient 7

Comments:

Entry last updated on: 2014-10-31 04:42:32

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* 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

Displaying a total number of 4 proband entries.