CDKL5 Proband Entry
Entry ID: cp76
Systematic name: c.2635_2636delCT
Protein name: p.Leu879Glufs*30
Alternate name(s): p.L879fs
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - severe encephalopathy and refractory epilepsy
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: No
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs61753251
Source: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821
Publication ID: 17
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.2635_2636delCT | p.Leu879Glufs*30 | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp20 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp75 |
c.2635_2636delCT | p.Leu879Glufs*30 | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp408 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp459 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - ISSX | Female | 22678952 Bahi-Buisson et al (2012) | cp460 |
Displaying a total number of 5 proband entries.