CDKL5 Proband Entry

Entry ID: cp454

Systematic name: c.533G>A

Protein name: p.Arg178Gln

Alternate name(s): p.R178Q

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - 53:47

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: rs267606715

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 5


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Male 21770923 Liang et al (2011) cp288
c.533G>A p.Arg178Gln Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187 Carvill et al (2013) cp427
c.533G>A p.Arg178Gln Not Rett syndrome - infantile spasms Male 24564546 Zhao et al (2014) cp449

Displaying a total number of 3 proband entries.