CDKL5 Proband Entry



Entry ID: cp379

Systematic name: c.2704C>T

Protein name: p.Gln902*

Alternate name(s): p.Q902X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical, early onset seizures

Other mutation:

X-inactivation results: Yes - 70:30

Chromosomal abnormality: No

Method of testing: direct, MECP2 negative, CDKL5 Ex1-22

Source of DNA: not stated

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 200/200 chromosomes

dbSNP ID:

Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Entry last updated on: 2014-05-15 05:58:00

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