Proband information
Proband id | 3297 |
---|---|
Systematic Name (NM_004992.3:) |
c.1157_1188del32 |
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1224del32 |
Alternate Protein name (NP_001104262) |
p.(Leu398Argfs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296091_153296122del32 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1157_1188del32 | p.Leu386fs | Female | Sister with classical Rett has mutation, unaffected mother has mutation, brother who died of congenital encephalopathy not screened for mutation | Rett syndrome-Preserved speech | 1181 | 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 |
2 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-Not certain | 1257 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | |
3 | c.1157_1188del32 | p.Leu386fs | Female | Sister with preserved speech Rett has mutation, unaffected mother has mutation, brother who died of congenital encephalopathy not screened for mutation | Rett syndrome-Classical | 1545 | 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 |
4 | c.1157_1188del32 | p.Leu386fs | Female | Daughter with preserved speech Rett has mutation, daughter with classical Rett has mutation, son who died of congenital encephalopathy not screened for mutation | Not Rett synd. | 1546 | 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_1188del32 | p.Leu386fs | Female | Rett syndrome-Classical | 2115 | :Cardiff, UK:: | |
6 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-Atypical | 2116 | :Cardiff, UK:: | |
7 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-atypical | 2973 | 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 | |
8 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-not certain | 3297 | 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 | |
9 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-not certain | 3304 | 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 | |
10 | c.1157_1188del32 | p.Leu386fs | Female | NK | Rett syndrome-not certain | 3357 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
11 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-not certain | 3509 | 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 | |
12 | c.1157_1188del32 | p.Leu386fs | Female | Rett syndrome-not certain | 4709 | 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 |