Proband information
Proband id | 3758 |
---|---|
Systematic Name (NM_004992.3:) |
c.1157_1200del44 |
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1236del44 |
Alternate Protein name (NP_001104262) |
p.(Leu398Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296122del44 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-NK |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1157_1200del44 | p.Leu386fs | Female | Variation not found in parents | Rett syndrome-Not certain | 125 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
2 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 391 | ::: | |
3 | c.1157_1200del44 | p.Leu386fs | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 448 | ::: |
4 | c.1157_1200del44 | p.Leu386fs | Unknown | Rett syndrome-Classical | 917 | ::: | |
5 | c.1157_1200del44 | p.Leu386fs | Female | Neither parent has variation | Not Rett synd. | 1151 | Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 |
6 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 1457 | 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 | |
7 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 1698 | :Friez, Michael:: | |
8 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 2008 | ::: | |
9 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2107 | :Cardiff, UK:: | |
10 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2108 | :Cardiff, UK:: | |
11 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2109 | :Cardiff, UK:: | |
12 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2110 | :Cardiff, UK:: | |
13 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2111 | :Cardiff, UK:: | |
14 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2112 | :Cardiff, UK:: | |
15 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2625 | 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 | |
16 | c.1157_1200del44 | p.Leu386fs | Female | de novo | Rett syndrome-preserved speech | 2863 | 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 |
17 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3064 | 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 | |
18 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3307 | 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 | |
19 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3308 | 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 | |
20 | c.1157_1200del44 | p.Leu386fs | Female | de novo | Rett syndrome-classical | 3359 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
21 | c.1157_1200del44 | p.Leu386fs | Female | de novo | Rett syndrome-NK | 3758 | 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 |
22 | c.1157_1200del44 | p.Leu386fs | Female | de novo | Rett syndrome-NK | 3759 | 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 |
23 | c.1157_1200del44 | p.Leu386fs | Female | de novo | Rett syndrome-NK | 3760 | 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 |
24 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 3871 | Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin:Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.:Genetic Testing and Molecular Biomarkers: 19371229 | |
25 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 4414 | :Das, S., Dempsey, M. U. Chicago:: | |
26 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 4415 | :Das, S., Dempsey, M. U. Chicago:: | |
27 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 4931 | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 | |
28 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6660 | ::: | |
29 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6659 | ::: | |
30 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6658 | ::: |