CDKL5 Proband Entry



Entry ID: cp3

Systematic name: c.183delT

Protein name: p.Met63Cysfs*13

Alternate name(s): p.M63fs

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - autism only

Other mutation: MECP2: c.426C>T

X-inactivation results: Yes - 77:23

Chromosomal abnormality: Not known

Method of testing: direct, exons 1-21

Source of DNA: blood

Familial testing: found in affected monozygotic twin sister and affected brother but not in mother

Familial X-inactivation: mother skewed

Control screening: No

dbSNP ID: rs62643608

Source: Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L.D., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093. Pubmed ID: 15492925

Publication ID: Family 1, III:2

Comments: affected siblings had the same mutation, not identified in mother; the MECP2 F142F (c.426C>T) mutation was also found in the mother and affected sister only

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.183delT p.Met63Cysfs*13 Not Rett syndrome - sporadic mental retardation Male 15492925 Weaving et al (2004) cp1
c.183delT p.Met63Cysfs*13 Rett syndrome - atypical Female 15492925 Weaving et al (2004) cp2

Displaying a total number of 2 proband entries.