CDKL5 Proband Entry



Entry ID: cp461

Systematic name: c.1039C>T

Protein name: p.Gln347*

Alternate name(s): p.Q347X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, not stated

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608561

Source: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436

Publication ID: Patient 1 (#1567)

Comments:

Entry last updated on: 2014-10-31 04:42:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp290

Displaying a total number of 1 proband entries.