CDKL5 Proband Entry



Entry ID: cp75

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: 12

Comments:

Entry last updated on: 2014-03-13 06:06:07

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) cp76
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.