Variant information


Systematic Name c.1157_1197del41
Protein name p.Leu386fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Evidence of Pathogenicity
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 39 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 347 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
3 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 482 :::
4 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 1180 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
5 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1206 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
6 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1363 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
7 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1364 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
8 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1365 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
9 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1379 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359
10 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1428 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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1455 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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1606 :Bunyan, D.::
13 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1741 :Friez, Michael::
14 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1768 :Friez, Michael::
15 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1834 :Bunyan, D.::
16 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2014 :::
17 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2113 :Cardiff, UK::
18 c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2114 :Cardiff, UK::
19 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2624 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.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 2770 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963
21 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 2862 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
22 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 2910 Identification of MeCP2 mutations in a series of females with autistic disorder:Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.:Pediatr Neurol: 12770674
23 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2971 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
24 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2972 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
25 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3046 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
26 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3047 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
27 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3063 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
28 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3292 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
29 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3305 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
30 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3306 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
31 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3511 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
32 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3512 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
33 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 4343 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
34 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4412 :Das, S., Dempsey, M. U. Chicago::
35 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4413 :Das, S., Dempsey, M. U. Chicago::
36 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4710 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
37 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4770 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
38 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4771 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
39 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4772 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
40 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4922 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
41 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 5135 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
42 c.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 6753 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.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6752 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
44 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6655 :::
45 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6654 :::
46 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 6653 :::
47 c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6652 :::