CDKL5 Proband Entry



Entry ID: cp10

Systematic name: c.525A>T

Protein name: p.Arg175Ser

Alternate name(s): p.R175S

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: No - normal

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: found in affected monozygotic twin sister, not in unaffected family members

Familial X-inactivation:

Control screening: No

dbSNP ID: rs61749700

Source: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549

Publication ID: Family 2, II:3

Comments:

Entry last updated on: 2014-03-13 06:02:43

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.525A>T p.Arg175Ser Rett syndrome - not certain Female 15499549 Tao et al (2004) cp9
c.525A>T p.Arg175Ser Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp341

Displaying a total number of 2 proband entries.