CDKL5 Proband Entry

Entry ID: cp266

Systematic name: c.-253-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1 to 3)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Yes - 157 kb deletion involving exons 1-3 of CDKL5

Method of testing: array CGH

Source of DNA: blood

Familial testing: mother negative

Familial X-inactivation:

Control screening: No


Source: Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10:363-369. Pubmed ID: 19471977

Publication ID: patient 1


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_99+?del p.Met1? Not Rett syndrome - X-linked infantile spasm syndrome Female 19807736 Cordova-Fletes et al (2010) cp141
c.[=/-253-?_99+?del] p.[=/Met1?] Not Rett syndrome - severe developmental delay with possible regression Male 21293276 Bartnik et al (2011) cp227
c.-253-?_99+?del p.Met1? Rett syndrome - atypical Female Directly submitted cp286

Displaying a total number of 3 proband entries.