CDKL5 Proband Entry



Entry ID: cp67

Systematic name: c.229_232delGAAG

Protein name: p.Glu77Hisfs*35

Alternate name(s): p.E77HfsX35 (p.E77fs)

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

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: rs267608441

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: 13

Comments:

Entry last updated on: 2014-03-13 06:06:07

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