CDKL5 Proband Entry



Entry ID: cp448

Systematic name: c.890_891dupTT

Protein name: p.Gln298Phefs*53

Alternate name(s): p.Q298fs

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical, early onset seizures

Other mutation:

X-inactivation results: Yes - 56:44

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: variant also found in twin sister, de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546

Publication ID: Patient 7

Comments:

Entry last updated on: 2014-10-31 04:42:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.890_891dupTT p.Gln298Phefs*53 Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp447

Displaying a total number of 1 proband entries.