Proband information



Proband id 2505
Systematic Name c.426C>T
Protein name p.Phe142Phe
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Direct for CDKL5, direct and MLPA for MECP2
Extent Not certain
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., 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.:American Journal of Human Genetics: 15492925

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Not certain 45 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Atypical 364 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., 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.:American Journal of Human Genetics: 15492925
3 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 365 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., 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.:American Journal of Human Genetics: 15492925
4 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Male Not Rett synd. 1885 :::
5 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2505 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., 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.:American Journal of Human Genetics: 15492925
6 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2506 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., 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.:American Journal of Human Genetics: 15492925
7 c.426C>T p.Phe142Phe silent MBD Silent polymorphism Unknown Not Rett synd. 4622 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
8 c.426C>T p.Phe142Phe missense MBD Silent polymorphism Male Not Rett synd. 6907 :::