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.