Proband information
Proband id | 2803 |
---|---|
Systematic Name (NM_004992.3:) |
c.-114_-104del11 |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.47_57del11 |
Alternate Protein name (NP_001104262) |
p.(Gly16Glufs*22) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363066_153363076del11 |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | promoter and exon 1 |
Source of DNA | NK |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422 |
Matching entries in the proband database
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 | ::: |