CDKL5 Proband Entry



Entry ID: cp418

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 - early-onset epilepsy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - 1.09 Mb deletion at Xp22.13 containing CDKL5, RS1, PHAK2, also duplications of 0.22 Mb, 0.19 Mb of P

Method of testing: SNP array

Source of DNA: not stated

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. (2013) CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. Journal of Child Neurology 28:937-941. Pubmed ID: 22832775

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:16:41

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 - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421

Displaying a total number of 4 proband entries.