CDKL5 Proband Entry
Entry ID: cp228
Systematic name: c.100-?_145+?del
Protein name: p.(Glu34Lysfs*27)
Alternate name(s): p.E34fs (deletion of exon 4)
Mutation type: exonic deletion or duplication
Domain: ATP binding region
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - intractable epilpsy, psychomotor retardation, hypotonia
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: No
Method of testing: microarray CGH, MLPA, real-time PCR
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Bartnik, M., Derwinska, K., Gos, M., Obersztyn, E., Kolodziejska, K.E., Erez, A., Szpecht-Potocka, A., Fang, P., Terczynska, I., Mierzewska, H., Lohr, N.J., Bellus, G.A., Reimschisel, T., Bocian, E., Mazurczak, T., Cheung, S.W., Stankiewicz, P. (2011) Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genetics in Medicine 13:447-452. Pubmed ID: 21293276
Publication ID: 2
Comments: potentially mosaic (35%) deletion between 1 and 11 kb affecting exon 4, predicted to cause premature truncation; also reported in Boone et al. 2010. Hum Mutat 31:1326-42
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.