CDKL5 Proband Entry



Entry ID: cp22

Systematic name: c.2343delG

Protein name: p.Arg781Serfs*3

Alternate name(s): p.R781fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2 and CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62643614

Source: Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., Ariani, F., Hayek, G., Balestri, P., Bergo, A., Badaracco, G., Zappella, M., Broccoli, V., Renieri, A., Kilstrup-Nielsen, C., Landsberger, N. (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 14:1935-1946. Pubmed ID: 15917271

Publication ID: 2

Comments:

Entry last updated on: 2014-03-13 06:02:43

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