Proband information
Proband id | 3478 |
---|---|
Systematic Name (NM_004992.3:) |
c.508C>T |
Protein name (NP_004983) |
p.Gln170* |
Alternate systematic Name (NM_001110792.1:) |
c.544C>T |
Alternate Protein name (NP_001104262) |
p.(Gln182*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296771G>A |
Mutation type | nonsense |
Domain | inter-domain region |
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 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.508C>T | p.Gln170* | Female | Rett syndrome-Classical | 301 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
2 | c.508C>T | p.Gln170* | Female | Rett syndrome-Not certain | 1078 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
3 | c.508C>T | p.Gln170* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1320 | 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 |
4 | c.508C>T | p.Gln170* | Female | Rett syndrome-not certain | 3198 | 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 | |
5 | c.508C>T | p.Gln170* | Female | Rett syndrome-classical | 3408 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
6 | c.508C>T | p.Gln170* | Female | Rett syndrome-not certain | 3478 | 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 | |
7 | c.508C>T | p.Gln170* | Female | de novo | Rett syndrome-classical | 3705 | 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 |