CDKL5 Proband Entry
Entry ID: cp221
Systematic name: c.1082dupC
Protein name: p.Ala362Cysfs*3
Alternate name(s): p.A362CfsX3
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset seizures and mental retardation
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: not specified, MECP2 negative
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608566
Source: Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., Boor, R., Stefanova, I., Gillessen-Kaesbach, G., Runge, C., Korenke, G.C., Spranger, S., Laccone, F., Tzschach, A., Kalscheuer, V.M. (2011) Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12:165-167. Pubmed ID: 21318334
Publication ID: patient 2
Comments: Note: parental screening results were given in Jahn et al 2013 J Child Neurol
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.