CDKL5 Proband Entry



Entry ID: cp55

Systematic name: c.2995G>A

Protein name: p.Val999Met

Alternate name(s): p.V999M

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - unaffected family member

Other mutation: MECP2_e1: c.45_47dup (MeCP2_e1:p.G16dup); on the same chromosome as p.V999M

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing:

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs35693326

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: 2014-05-09 06:14:58

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600 Nectoux et al (2006) cp54
c.2995G>A p.Val999Met Not Rett syndrome - infantile intractable epilepsy Female 21775177 Intusoma et al (2011) cp219
c.2995G>A p.Val999Met Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp319
c.2995G>A p.Val999Met Not known - unaffected family member Female 22867051 Maortua et al (2012) cp320
c.2995G>A p.Val999Met Not known - non-RTT control Female 22867051 Maortua et al (2012) cp321
c.2995G>A p.Val999Met Not Rett syndrome - developmental delay (no seizures) Female 23756444 Diebold et al (2014) cp433
c.2995G>A p.Val999Met Not known - unaffected family member Male 23756444 Diebold et al (2014) cp434
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510 Das et al (2013) cp439

Displaying a total number of 8 proband entries.