Variant information


Systematic Name c.808delC
Protein name p.Arg270fs
Mutation type Frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2 :Bunyan, D.::
2 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease 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 Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 Frameshift insertion or deletion TRD-NLS Mutation associated with disease 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 Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1870 :Bunyan, D.::
6 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2287 :Cardiff, UK::
7 c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2288 :Cardiff, UK::
8 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Male 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 frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6605 :::
20 c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6604 :::