CDKL5 Proband Entry



Entry ID: cp78

Systematic name: c.99+1G>T

Protein name: p.Ala23Asnfs*3

Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)

Mutation type: splicing variant

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - severe encephalopathy and refractory epilepsy

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: No

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs267608421

Source: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821

Publication ID: 4

Comments:

Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

There are no other entries in the database with a similar genotype.