Proband information



Proband id 3359
Systematic Name c.1157_1200del44
Protein name p.Leu386fs
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 or fibroblasts
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 125 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krńmer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
2 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 391 :::
3 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 448 :::
4 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 917 :::
5 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female 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 Frameshift insertion or deletion C-term Mutation associated with disease 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
7 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1698 :Friez, Michael::
8 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 2008 :::
9 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2107 :Cardiff, UK::
10 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2108 :Cardiff, UK::
11 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2109 :Cardiff, UK::
12 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2110 :Cardiff, UK::
13 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2111 :Cardiff, UK::
14 c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2112 :Cardiff, UK::
15 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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., Nistic˛, R., Mangone, L.:American Journal of Medical Genetics: 12567420
17 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4414 :Das, S., Dempsey, M. U. Chicago::
26 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4415 :Das, S., Dempsey, M. U. Chicago::
27 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6660 :::
29 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6659 :::
30 c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6658 :::