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 |
::: |