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: 2014-03-13 06:11:43

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