CDKL5 Proband Entry



Entry ID: cp433

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 Rett syndrome - developmental delay (no seizures)

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - 466-kb deletion involving SOX5 gene detected by array CGH, significance uncertain

Method of testing: direct, exons 2-21

Source of DNA: not stated

Familial testing: inherited from healthy father

Familial X-inactivation:

Control screening: No

dbSNP ID: rs35693326

Source: Diebold, B., Delepine, C., Gataullina, S., Delahaye, A., Nectoux, J., Bienvenu, T. (2014) Mutations in the C-terminus of CDKL5: proceed with caution. European Journal of Human Genetics 22:270-272. Pubmed ID: 23756444

Publication ID:

Comments:

Entry last updated on: 2014-10-31 04:40:12

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 known - unaffected family member Female 16813600 Nectoux et al (2006) cp55
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 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.