No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1157_1197del41 |
p.Leu386fs |
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 |
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 |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Classical |
482 |
::: |
4 |
c.1157_1197del41 |
p.Leu386fs |
Female |
Neither parent has variation |
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 |
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 |
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 |
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 |
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 |
Female |
Neither parent has variation |
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 |
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 |
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 |
Female |
|
Rett syndrome-Not certain |
1606 |
:Bunyan, D.:: |
13 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Not Known |
1741 |
:Friez, Michael:: |
14 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Not Known |
1768 |
:Friez, Michael:: |
15 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-Not certain |
1834 |
:Bunyan, D.:: |
16 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Not Known |
2014 |
::: |
17 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-Classical |
2113 |
:Cardiff, UK:: |
18 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-Classical |
2114 |
:Cardiff, UK:: |
19 |
c.1157_1197del41 |
p.Leu386fs |
Female |
parents negative |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
absent in paternal grandparents, mother and healthy sisters |
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 |
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 |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Female |
absent in mother |
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 |
Female |
|
Not Known |
4412 |
:Das, S., Dempsey, M. U. Chicago:: |
35 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Not Known |
4413 |
:Das, S., Dempsey, M. U. Chicago:: |
36 |
c.1157_1197del41 |
p.Leu386fs |
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 |
Female |
in two daughters with Rett |
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 |
Female |
inherited from mother with cognitive impair |
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 |
Female |
inherited from mother with cognitive impair |
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 |
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 |
Female |
de novo |
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 |
Female |
Mother,Father-Negative |
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 |
Female |
Mother,Father-Negative |
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 |
Female |
|
Rett syndrome-forme fruste |
6655 |
::: |
45 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-classical |
6654 |
::: |
46 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-forme fruste |
6653 |
::: |
47 |
c.1157_1197del41 |
p.Leu386fs |
Female |
|
Rett syndrome-classical |
6652 |
::: |