CDKL5 Proband Entry
Entry ID: cp21
Systematic name: c.838_847del10
Protein name: p.Asp281Thrfs*4
Alternate name(s): p.D281fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
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: rs61750250
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: 1
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.