No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
|
Rett syndrome-Not certain |
4 |
:Bunyan, D.:: |
2 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
Father has variation |
Not Known |
2049 |
::: |
3 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Male |
Relative of proband |
Not Rett synd. |
2068 |
::: |
4 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
|
Rett syndrome-Not certain |
2191 |
:Cardiff, UK:: |
5 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
de novo |
Rett syndrome-atypical |
2891 |
MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 |
6 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Male |
|
Not Rett synd. |
5250 |
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494 |
7 |
c.1168_1173del6 |
|
Female |
mother - heterozygous, father - negative |
Not Rett synd. |
6865 |
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
8 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
de novo |
Not Rett synd. |
6650 |
::: |
9 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
familial |
Not Rett synd. |
6649 |
::: |
10 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Female |
familial |
Not Rett synd. |
6648 |
::: |
11 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Male |
familial |
Not Rett synd. |
6647 |
::: |
12 |
c.1168_1173del6 |
p.Pro390_Pro391del |
Male |
in daughter with classic RTT |
Not Rett synd. |
6614 |
::: |