No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.590C>T |
p.Thr197Met |
Female |
|
Rett syndrome-Not certain |
46 |
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.590C>T |
p.Thr197Met |
Male |
Relative of proband |
Not Rett synd. |
373 |
::: |
3 |
c.590C>T |
p.Thr197Met |
Female |
Relative of proband |
Not Rett synd. |
375 |
::: |
4 |
c.590C>T |
p.Thr197Met |
Female |
Relative of proband |
Not Rett synd. |
376 |
::: |
5 |
c.590C>T |
p.Thr197Met |
Male |
Unaffected mother is carrier |
Not Rett synd. |
1534 |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
6 |
c.590C>T |
p.Thr197Met |
Female |
Relative of proband |
Not Rett synd. |
1535 |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
7 |
c.590C>T |
p.Thr197Met |
Female |
|
Not Known |
2124 |
:Cardiff, UK:: |
8 |
c.590C>T |
p.Thr197Met |
Male |
presence in mother and normal brother |
Not Rett synd. |
2747 |
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
9 |
c.590C>T |
p.Thr197Met |
Female |
|
Rett syndrome-not certain |
3515 |
Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
10 |
c.590C>T |
p.Thr197Met |
Female |
presence in mother and normal brother |
Not Rett synd. |
3938 |
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
11 |
c.590C>T |
p.Thr197Met |
Male |
presence in mother and normal brother |
Not Rett synd. |
3939 |
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
12 |
c.590C>T |
p.Thr197Met |
Female |
|
Rett syndrome-classical |
4858 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
13 |
c.590C>T |
p.Thr197Met |
Male |
|
Not Rett synd. |
5076 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
14 |
c.590C>T |
p.Thr197Met |
Female |
|
Not Rett synd. |
6908 |
::: |