CDKL5 Proband Entry



Entry ID: cp460

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 - ISSX

Other mutation:

X-inactivation results: Yes - 51:49

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs61753251

Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952

Publication ID: Patient 12

Comments:

Entry last updated on: 2014-10-31 04:42:32

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 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

Displaying a total number of 5 proband entries.