Variant information


Systematic Name c.806delG
Protein name p.Gly269Alafs*20
Mutation type frameshift insertion or deletion
Domain NLS
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection HRM,sequencing
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother,Father-Negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-preserved speech
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 21 :Bunyan, D.::
2 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 137 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
3 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 308 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
4 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 309 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
5 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 342 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
6 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 472 :::
7 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1113 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
8 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1114 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
9 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1148 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
10 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1426 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
11 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1452 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
12 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1495 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
13 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1496 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
14 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Rett synd. 1497 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
15 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1498 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
16 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1618 :Bunyan, D.::
17 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1680 :Friez, Michael::
18 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1702 :Friez, Michael::
19 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1744 :Friez, Michael::
20 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1812 :Friez, Michael::
21 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1843 :Bunyan, D.::
22 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1896 :::
23 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1897 :::
24 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 1926 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
25 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 1965 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
26 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1981 Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation:V. Leuzzi, M.L. Di Sabato, M. Zollino, M.L. Montanaro, and S. Seri:Neurology: 15557528
27 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 2010 :::
28 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Known 2060 :::
29 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2095 :Cardiff, UK::
30 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2096 :Cardiff, UK::
31 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2097 :Cardiff, UK::
32 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2604 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
33 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2605 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
34 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 2794 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
35 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3007 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
36 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3268 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
37 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3269 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
38 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3270 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
39 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3271 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
40 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3272 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
41 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3273 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
42 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3274 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
43 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3598 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
44 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3599 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
45 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3600 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
46 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3601 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
47 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3602 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
48 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3603 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
49 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3604 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
50 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3765 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
51 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4071 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
52 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4707 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
53 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4850 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
54 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4915 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
55 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5064 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
56 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5065 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
57 c.806delG p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Female Rett syndrome-preserved speech 6744 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
58 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6610 :::
59 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6609 :::
60 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6608 :::
61 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 6607 :::
62 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6606 :::
63 c.806delG p.Gly269fs nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6578 :::