No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.815C>T |
p.Pro272Leu |
Female |
Unaffected nonmosaic father carrier, unaffected sister carrier |
Rett syndrome-Not certain |
1652 |
::: |
2 |
c.815C>T |
p.Pro272Leu |
Male |
Relative of proband |
Not Rett synd. |
1653 |
::: |
3 |
c.815C>T |
p.Pro272Leu |
Female |
Relative of proband |
Not Rett synd. |
1654 |
::: |
4 |
c.815C>T |
p.Pro272Leu |
Female |
|
Rett syndrome-Atypical |
2127 |
:Cardiff, UK:: |
5 |
c.815C>T |
p.Pro272Leu |
Female |
paternal |
Rett syndrome-Classical |
2634 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
6 |
c.815C>T |
p.Pro272Leu |
Male |
present in healthy male |
Not Rett synd. |
2768 |
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
7 |
c.815C>T |
p.Pro272Leu |
Female |
|
Not Rett synd. |
3930 |
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
8 |
c.815C>T |
p.Pro272Leu |
Male |
paternal |
Not Rett synd. |
3977 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |