CDKL5 Proband Entry



Entry ID: cp224

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: Not Rett syndrome - early-onset seizures and mental retardation

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not specified, MECP2 negative

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608643

Source: Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., Boor, R., Stefanova, I., Gillessen-Kaesbach, G., Runge, C., Korenke, G.C., Spranger, S., Laccone, F., Tzschach, A., Kalscheuer, V.M. (2011) Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12:165-167. Pubmed ID: 21318334

Publication ID: patient 5

Comments:

Entry last updated on: 2014-03-13 06:11:43

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* Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp458

Displaying a total number of 2 proband entries.