Variant information


Systematic Name c.1163_1188del26
Protein name p.Pro388fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female 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 Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Forme fruste 918 :::
3 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease 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 Frameshift insertion or deletion C-term Mutation associated with disease 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 Frameshift insertion or deletion C-term Mutation associated with disease 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 Frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4416 :Das, S., Dempsey, M. U. Chicago::
11 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6646 :::