Proband information
Proband id | 45 |
---|---|
Systematic Name (NM_004992.3:) |
c.426C>T |
Protein name (NP_004983) |
p.Phe142Phe |
Alternate systematic Name (NM_001110792.1:) |
c.462C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296853G>A |
Mutation type | Silent |
Domain | MBD |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.426C>T | p.Phe142Phe | 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 | Female | Father is not carrier, autistic relative has silent polymorphism, normal sister has silent polymorphism, unusual male relative is not carrier, another family member is not carrier | 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 | Female | Relative of proband | 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 | Male | Not Rett synd. | 1885 | ::: | |
5 | c.426C>T | p.Phe142Phe | Female | Relative of proband | 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 | Female | Relative of proband | 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 | 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 | Male | Not Rett synd. | 6907 | ::: |