CDKL5 Proband Entry



Entry ID: cp268

Systematic name: c.-162-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 2 and 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 - extremely skewed

Chromosomal abnormality: Yes - 75 kb deletion involving exons 1a to 3 of CDKL5

Method of testing: array CGH

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

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 3

Comments:

Entry last updated on: 2014-03-13 06:12:43

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-162-?_99+?del p.Met1? Rett syndrome - not specified Female 19241098 Russo et al (2009) cp109

Displaying a total number of 1 proband entries.