CDKL5 Proband Entry

Entry ID: cp63

Systematic name: c.145+2T>C

Protein name: p.?

Alternate name(s): intronic variation (predicted effect p.E49fs)

Mutation type: splicing variant

Domain: catalytic domain

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: rs267608430

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: 2

Comments: seizures at 2.5mo, severely delayed psychomotor development, no language skills, poor visual contact and social interaction

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.145+2T>C p.? Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp79

Displaying a total number of 1 proband entries.