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: 2014-03-13 06:11:43

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