CDKL5 Proband Entry
Entry ID: cp65
Systematic name: c.425T>A
Protein name: p.Leu142*
Alternate name(s): p.L142X
Mutation type: nonsense
Domain: serine-threonine kinase site
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: rs267608477
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: 9
Comments:
Entry last updated on: 2018-06-05 13:45:42
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