Proband information


Proband id 838
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 100 chromosomes tested and not found in 100 chromosomes
Detection SSCP
Extent
Source of DNA
Carrier Y
Carrier result 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
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-X-linked mental retardation
Reference 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

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