CDKL5 Proband Entry



Entry ID: cp100

Systematic name: c.1311dupC

Protein name: p.Ser438Glnfs*25

Alternate name(s): p.S438QfsX25 (p.S438fs)

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: Yes - 70:30

Chromosomal abnormality: Not known

Method of testing: direct, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608623

Source: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Publication ID: 11

Comments:

Entry last updated on: 2014-03-13 06:07:05

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1311dupC p.Ser438Glnfs*25 Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp70

Displaying a total number of 1 proband entries.