Proband information



Proband id 3065
Systematic Name c.1164_1207del44
Protein name p.Pro389*
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Detection direct
Extent exons 2-4
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 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 14 :Bunyan, D.::
2 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 22 :Bunyan, D.::
3 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 349 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
4 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1121 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.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1594 :Bunyan, D.::
6 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1611 :Bunyan, D.::
7 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1693 :Friez, Michael::
8 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1848 :Bunyan, D.::
9 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2184 :Cardiff, UK::
10 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2185 :Cardiff, UK::
11 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2186 :Cardiff, UK::
12 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2187 :Cardiff, UK::
13 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2188 :Cardiff, UK::
14 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2189 :Cardiff, UK::
15 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2190 :Cardiff, UK::
16 c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2487 Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727
17 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2627 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
18 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2628 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
19 c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2629 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
20 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 2755 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334
21 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 2884 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
22 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 2885 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
23 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3011 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
24 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3065 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
25 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3066 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
26 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3315 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
27 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 3982 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334
28 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 5300 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973
29 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4308 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
30 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4316 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
31 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Known 4417 :Das, S., Dempsey, M. U. Chicago::
32 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4418 :Das, S., Dempsey, M. U. Chicago::
33 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4790 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
34 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4791 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
35 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 4792 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
36 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 4793 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
37 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4794 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
38 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4856 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
39 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-preserved speech 6758 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
40 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-classical 6757 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
41 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Rett syndrome-atypical 6756 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
42 c.1164_1207del44 p.Proro389* nonsense C-term Mutation associated with disease Female Not Known 6755 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
43 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Male Not Rett synd. 6673 :::
44 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6674 :::
45 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6664 :::
46 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6663 :::
47 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6662 :::
48 c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6661 :::