CDKL5 Proband Entry



Entry ID: cp196

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: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Yes - 0.3 Mb deletion at Xp22.13 including the whole of CDKL5

Method of testing: array CGH

Source of DNA: blood

Familial testing: not found in normal mother

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Castren, M., Gaily, E., Tnstrom, C., Lahdetie, J., Archer, H., Ala-Mello, S. (2011) Epilepsy caused by CDKL5 mutations. European Journal of Paediatric Neurology 15:65-69. Pubmed ID: 20493745

Publication ID: Case 2

Comments:

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

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
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? 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.