CDKL5 Proband Entry



Entry ID: cp458

Systematic name: c.1648C>T

Protein name: p.Arg550*

Alternate name(s): p.R550X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: Yes - 25:75

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: rs267608643

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 10

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.1648C>T p.Arg550* Rett syndrome - early-onset seizure Female 18063413 Pintaudi et al (2008) cp62
c.1648C>T p.Arg550* Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp224

Displaying a total number of 2 proband entries.