CDKL5 Proband Entry

Entry ID: cp137

Systematic name: c.[1675C>T];[=]

Protein name: p.[Arg559*];[=]

Alternate name(s): p.[R559X];[=]

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: Yes - 50:50

Chromosomal abnormality: Yes - 47,XXY male

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Sartori, S., Di Rosa, G., Polli, R., Bettella, E., Tricomi, G., Tortorella, G., Murgia, A. (2009) A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. American Journal of Medical Genetics Part A 149A:232-236. Pubmed ID: 19161156

Publication ID:

Comments: mutation heterozygous

Entry last updated on: 2014-03-13 06:07:34

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