CDKL5 Proband Entry

Entry ID: cp62

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 - early-onset seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, not certain

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608643

Source: Pintaudi, M., Giuseppina Baglietto, M., Gaggero, R., Parodi, E., Pessagno, A., Marchi, M., Russo, S., Veneselli, E. (2008) Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 12:326-331. Pubmed ID: 18063413

Publication ID: 1

Comments: seizures at 1.5mo, slight hand stereotypies, able to grasp, no language skills

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.1648C>T p.Arg550* Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp224
c.1648C>T p.Arg550* Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp458
c.1648C>T p.Arg550* Not Rett syndrome Female 27599155 Lilles S et al (2016) cp583

Displaying a total number of 3 proband entries.