CDKL5 Proband Entry
Entry ID: cp457
Systematic name: c.400C>T
Protein name: p.Arg134*
Alternate name(s): p.R134X
Mutation type: nonsense
Domain: serine-threonine kinase site
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - 75:25
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: rs267608472
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 8
Comments:
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.400C>T | p.Arg134* | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp223 |
Displaying a total number of 1 proband entries.