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: 2014-03-13 06:05:36

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