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
dbSNP ID:
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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There are no other entries in the database with a similar genotype.