CDKL5 Proband Entry



Entry ID: cp296

Systematic name: c.-253-?_*1085del

Protein name: p.Met1?

Alternate name(s): p.M1? (whole gene deletion)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - deletion involving CDKL5, RS1, PPEF1 and PHKA2

Method of testing: array CGH

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923

Publication ID: 2

Comments:

Entry last updated on: 2014-03-13 06:13:10

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421

Displaying a total number of 4 proband entries.