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