Proband information
Proband id | 2490 |
---|---|
Systematic Name (NM_004992.3:) |
c.1216C>T |
Protein name (NP_004983) |
p.Gln406* |
Alternate systematic Name (NM_001110792.1:) |
c.1252C>T |
Alternate Protein name (NP_001104262) |
p.(Gln418*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296063G>A |
Mutation type | Nonsense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | Direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Not Rett synd.-Sporadic mental retardation |
Reference | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1216C>T | p.Gln406* | Male | Unaffected brother does not have mutation, unaffected mother has mutation, mentally retarded maternal uncle has mutation, unaffected maternal uncle does not have mutation, unaffected maternal grandmother has mutation | Not Rett synd. | 838 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 |
2 | c.1216C>T | p.Gln406* | Female | Relative of proband | Not Rett synd. | 1542 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 |
3 | c.1216C>T | p.Gln406* | Male | Mentally retarded nephew has mutation, unaffected nephew does not have mutation, unaffected sister has mutation, unaffected brother does not have mutation, unaffected mother has mutation | Not Rett synd. | 1543 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 |
4 | c.1216C>T | p.Gln406* | Female | Relative of proband | Not Rett synd. | 1544 | A mutation in the Rett Syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males:Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D'Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra:American Journal of Medical Genetics: 10986043 |
5 | c.1216C>T | p.Gln406* | Female | Neither parent has variation | Not Rett synd. | 2490 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
6 | c.1216C>T | p.Gln406* | Female | Rett syndrome-not certain | 4914 | 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 |