CDKL5 Proband Entry
Entry ID: cp347
Systematic name: c.1375C>T
Protein name: p.Gln459*
Alternate name(s): p.Q459X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early-onset seizure
Other mutation:
X-inactivation results: Yes - 58:42
Chromosomal abnormality: Not known
Method of testing: direct, MECP2-negative, including MLPA
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Zhang, Z., Bao, X., Zhang, J., Zhao, Y., Cao, G., Pan, H., Zhang, J., Wei, L., Wu, X. (2012) Molecular characteristics of Chinese patients with Rett syndrome. European Journal of Medical Genetics 55:677-681. Pubmed ID: 22982301
Publication ID:
Comments: X-chromosome inactivation results from Zhao et al 2014. PMID: 24564546
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.