Proband information
Proband id | 3317 |
---|---|
Systematic Name (NM_004992.3:) |
c.1163_1188del26 |
Protein name (NP_004983) |
p.Pro388fs |
Alternate systematic Name (NM_001110792.1:) |
c.1199_1224del26 |
Alternate Protein name (NP_001104262) |
p.(Pro400Argfs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296091_153296116del26 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1163_1188del26 | p.Pro388fs | Female | Neither parent has variation | Rett syndrome-Classical | 946 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
2 | c.1163_1188del26 | p.Pro388fs | Unknown | Rett syndrome-Forme fruste | 918 | ::: | |
3 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-Not certain | 1119 | 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 | |
4 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-Not certain | 1258 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | |
5 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-Classical | 1478 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
6 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-classical | 1940 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
7 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-not certain | 3062 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | |
8 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-not certain | 3317 | 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 | |
9 | c.1163_1188del26 | p.Pro388fs | Female | de novo | Rett syndrome-forme fruste | 3379 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
10 | c.1163_1188del26 | p.Pro388fs | Female | Not Known | 4416 | :Das, S., Dempsey, M. U. Chicago:: | |
11 | c.1163_1188del26 | p.Pro388fs | Female | Rett syndrome-classical | 6646 | ::: |