No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.-116_-114dupAGG |
p.(=) |
Female |
Unaffected mother has variation, unaffected maternal uncle has variation |
Not Known |
2004 |
:Bradford Coffee:: |
2 |
c.-116_-114dupAGG |
p.(=) |
Female |
Relative of proband |
Not Rett synd. |
2005 |
:Bradford Coffee:: |
3 |
c.-116_-114dupAGG |
p.(=) |
Male |
Relative of proband |
Not Rett synd. |
2006 |
:Bradford Coffee:: |
4 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2557 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
5 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2558 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
6 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2559 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
7 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2560 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
8 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2561 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
9 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
2562 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
10 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
3915 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
11 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
3916 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
12 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
3917 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
13 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
4822 |
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 |
14 |
c.-116_-114dupAGG |
p.(=) |
Female |
in daughter with classic RTT |
Not Rett synd. |
6345 |
::: |
15 |
c.-116_-114dupAGG |
p.(=) |
Female |
in unaffected mother |
Rett syndrome-classical |
6344 |
::: |
16 |
c.-116_-114dupAGG |
p.(=) |
Female |
|
Not Rett synd. |
6845 |
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 |