CDKL5 Proband Entry
Entry ID: cp1
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: Male
Phenotype: Not Rett syndrome - sporadic mental retardation
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No - normal
Method of testing: direct, exons 1-21
Source of DNA: blood
Familial testing: c.183delT in two affected sisters, not in unaffected family members
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:3
Comments: affected siblings had the same mutation, not identified in mother
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.183delT | p.Met63Cysfs*13 | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp2 |
c.183delT | p.Met63Cysfs*13 | Not Rett syndrome - autism only | Female | 15492925 Weaving et al (2004) | cp3 |
Displaying a total number of 2 proband entries.