No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.-114_-104del11 |
p.(=) |
Female |
de novo |
Rett syndrome-atypical |
2801 |
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome:Amir, R.E., Fang, P., Yu, Z., Glaze, D.G., Percy, A.K., Zoghbi, H.Y., Roa, B.B., Van den Veyver, I.B.:Journal of Medical Genetics: 15689438 |
2 |
c.-114_-104del11 |
p.(=) |
Female |
de novo |
Rett syndrome-classical |
2803 |
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422 |
3 |
c.-114_-104del11 |
p.(=) |
Female |
|
Rett syndrome-atypical |
2916 |
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2:Saxena, A., de Lagarde, D., Leonard, H., Williamson, S.L., Vasudevan, V., Christodoulou, J., Thompson, E., MacLeod, P., Ravine, D.:J Med Genet: 16155192 |
4 |
c.-114_-104del11 |
p.(=) |
Female |
absent in parents and brother |
Rett syndrome-not certain |
2928 |
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome:Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J.M., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.H., Vincent, J.B., Minassian, B.A.:Nature Genetics: 15034579 |
5 |
c.-114_-104del11 |
p.(=) |
Female |
|
Not Known |
4445 |
:Das, S., Dempsey, M. U. Chicago:: |
6 |
c.-114_-104del11 |
p.(=) |
Male |
|
Not Known |
4446 |
:Das, S., Dempsey, M. U. Chicago:: |
7 |
c.-114_-104del11 |
p.(=) |
Female |
de novo |
Rett syndrome-classical |
5121 |
MECP2 gene study in a large cohort Testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
8 |
c.-114_-104del11 |
p.(=) |
Female |
|
Not Rett synd. |
6628 |
::: |