CDKL5 Proband Entry



Entry ID: cp446

Systematic name: c.1790dupG

Protein name: p.Tyr598Leufs*13

Alternate name(s): p.Y598fs

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 - 55:45

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: 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 3

Comments: variant quoted in paper as c.1791insG, see variant entry for more details

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

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