CDKL5 Proband Entry



Entry ID: cp66

Systematic name: c.2500C>T

Protein name: p.Gln834*

Alternate name(s): p.Q834X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

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: rs122460158

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: 20

Comments:

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

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600 Nectoux et al (2006) cp54

Displaying a total number of 1 proband entries.