Proband information
Proband id | 3011 |
---|---|
Systematic Name (NM_004992.3:) |
c.1164_1207del44 |
Protein name (NP_004983) |
p.Pro389* |
Alternate systematic Name (NM_001110792.1:) |
c.1200_1243del44 |
Alternate Protein name (NP_001104262) |
p.(Pro401*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296072_153296115del44 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 14 | :Bunyan, D.:: | |
2 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 22 | :Bunyan, D.:: | |
3 | c.1164_1207del44 | p.Pro389* | 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* | 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* | Female | Rett syndrome-Not certain | 1594 | :Bunyan, D.:: | |
6 | c.1164_1207del44 | p.Pro389* | Female | Neither parent has variation | Rett syndrome-Not certain | 1611 | :Bunyan, D.:: |
7 | c.1164_1207del44 | p.Pro389* | Female | Not Known | 1693 | :Friez, Michael:: | |
8 | c.1164_1207del44 | p.Pro389* | Female | Neither parent has variation | Rett syndrome-Not certain | 1848 | :Bunyan, D.:: |
9 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2184 | :Cardiff, UK:: | |
10 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2185 | :Cardiff, UK:: | |
11 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2186 | :Cardiff, UK:: | |
12 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2187 | :Cardiff, UK:: | |
13 | c.1164_1207del44 | p.Pro389* | Female | Atypical Rett syndrome twin sister has variation | Rett syndrome-Atypical | 2188 | :Cardiff, UK:: |
14 | c.1164_1207del44 | p.Pro389* | Female | Atypical Rett syndrome twin sister has variation | Rett syndrome-Atypical | 2189 | :Cardiff, UK:: |
15 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2190 | :Cardiff, UK:: | |
16 | c.1164_1207del44 | p.Pro389* | 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* | Female | parents negative | 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* | Female | sister negative | 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* | 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* | Male | mother asymptomatic carrier, de novo in mother | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | son with Rett syndrome | 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* | 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* | 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* | 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* | Male | Not Known | 4417 | :Das, S., Dempsey, M. U. Chicago:: | |
32 | c.1164_1207del44 | p.Pro389* | Female | Not Known | 4418 | :Das, S., Dempsey, M. U. Chicago:: | |
33 | c.1164_1207del44 | p.Pro389* | Female | in affected daughter, affected son, affected grandchildren | 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* | Female | in affected mother, brother and children | 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* | Male | in affected mother, affected sister, sister's children | 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* | Male | in affected maternal grandmother, mother, maternal aunt, sister | 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* | Female | in affected maternal grandmother, mother, maternal aunt, borhter | 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* | Female | de novo | 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* | Female | Mother,Father-Negative | 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* | Female | Mother,Father-Negative | 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* | Female | Mother,Father-Negative | 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* | Female | mother-negative,sibling(prenatal diagnosis)-negative | 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* | Male | mother has | Not Rett synd. | 6673 | ::: |
44 | c.1164_1207del44 | p.Pro389* | Female | in son with mental retardation | Not Rett synd. | 6674 | ::: |
45 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-forme fruste | 6664 | ::: | |
46 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 6663 | ::: | |
47 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 6662 | ::: | |
48 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 6661 | ::: |