CDKL5 Proband Entry



Entry ID: cp46

Systematic name: c.2363_2367delAGAAA

Protein name: p.Lys788Ilefs*11

Alternate name(s): p.K788fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - X-linked West syndrome/autism

Other mutation:

X-inactivation results: Yes - 80:20

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: lymphocyte

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608655

Source: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748

Publication ID: patient 1

Comments:

Entry last updated on: 2014-03-13 06:05:23

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