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: 2018-06-05 13:45:42
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