CDKL5 Proband Entry
Entry ID: cp54
Systematic name: c.[2500C>T;2995G>A]
Protein name: p.Gln834*
Alternate name(s): p.[Q834X;V999M]
Mutation type: combination/multiple mutations
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early seizure
Other mutation: MECP2_e1: c.45_47dup (MeCP2_e1:p.G16dup); all three mutations on the same chromosome
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: p.V999M inherited from unaffected mother, p.Q834X on same chromosome de novo
Familial X-inactivation: carrier mother with balanced X-inactivation
Control screening: not found in 100/100 controls
dbSNP ID:
Source: Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, T. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29-33. Pubmed ID: 16813600
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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