CDKL5 Proband Entry



Entry ID: cp270

Systematic name: c.2497-?_*1085del

Protein name: p.?

Alternate name(s): p.S833fs (deletion of exons 18 to 21)

Mutation type: exonic deletion or duplication

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - West syndrome

Other mutation:

X-inactivation results: Yes - 95:5 (derX:normalX)

Chromosomal abnormality: Yes - t(X;18)(p22;p11.2) translocation of chromosomes 18 and X, with breakpoints in PTPRM intron 7 and CDK

Method of testing: karyotype, FISH

Source of DNA: not certain

Familial testing: not in either parent

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Nishimura, A., Takano, T., Mizuguchi, T., Saitsu, H., Takeuchi, Y., Matsumoto, N. (2009) CDKL5 disruption by t(X;18) in a girl with West syndrome. Clinical Genetics 74:288-290. Pubmed ID: 18564362

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:12:43

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