Proband information
Proband id | 2861 |
---|---|
Systematic Name (NM_004992.3:) |
c.808delC |
Protein name (NP_004983) |
p.Arg270fs |
Alternate systematic Name (NM_001110792.1:) |
c.844delC |
Alternate Protein name (NP_001104262) |
p.(Arg282Glufs*19) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296471delG |
Mutation type | frameshift insertion or deletion |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
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 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.808delC | p.Arg270fs | Female | Rett syndrome-Not certain | 2 | :Bunyan, D.:: | |
2 | c.808delC | p.Arg270fs | Female | Rett syndrome-Not certain | 34 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
3 | c.808delC | p.Arg270fs | Female | Variation not found in parents | Rett syndrome-Classical | 189 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
4 | c.808delC | p.Arg270fs | Female | Rett syndrome-Not certain | 1115 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
5 | c.808delC | p.Arg270fs | Female | Rett syndrome-Not certain | 1870 | :Bunyan, D.:: | |
6 | c.808delC | p.Arg270fs | Female | Rett syndrome-Classical | 2287 | :Cardiff, UK:: | |
7 | c.808delC | p.Arg270fs | Female | Rett syndrome-Classical | 2288 | :Cardiff, UK:: | |
8 | c.808delC | p.Arg270fs | Male | de novo | Not Rett synd. | 2793 | Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102 |
9 | c.808delC | p.Arg270fs | Female | germline mosaicism in father (5% sperm) | Rett syndrome-not certain | 2797 | Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328 |
10 | c.808delC | p.Arg270fs | Female | germline mosaicism in father (5% sperm) | Rett syndrome-not certain | 2798 | Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328 |
11 | c.808delC | p.Arg270fs | Female | de novo | Rett syndrome-classical | 2861 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
12 | c.808delC | p.Arg270fs | Female | Rett syndrome-atypical | 2968 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
13 | c.808delC | p.Arg270fs | Female | Rett syndrome-not certain | 3275 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
14 | c.808delC | p.Arg270fs | Female | Rett syndrome-classical | 3411 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
15 | c.808delC | p.Arg270fs | Female | de novo | Rett syndrome-classical | 3743 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
16 | c.808delC | p.Arg270fs | Female | de novo | Rett syndrome-classical | 3766 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
17 | c.808delC | p.Arg270fs | Female | absent in both parents, found in brother with male variant RTT | Rett syndrome-classical | 4224 | An explanation for another familial case of Rett syndrome: maternal germline mosaicism:Venancio, M., Santos, M., Pereira, S.A., Maciel, P., Saraiva, J.M.:European Journal of Human Genetics: 17440498 |
18 | c.808delC | p.Arg270fs | Male | absent in both parents, found in sister with classical RTT | Rett syndrome-male variant | 4225 | An explanation for another familial case of Rett syndrome: maternal germline mosaicism:Venancio, M., Santos, M., Pereira, S.A., Maciel, P., Saraiva, J.M.:European Journal of Human Genetics: 17440498 |
19 | c.808delC | p.Arg270fs | Female | Rett syndrome-classical | 6605 | ::: | |
20 | c.808delC | p.Arg270fs | Female | Rett syndrome-classical | 6604 | ::: |