Proband information
Proband id | 834 |
---|---|
Systematic Name (NM_004992.3:) |
c.1161_1400del240 |
Protein name (NP_004983) |
p.Pro388_Pro467del |
Alternate systematic Name (NM_001110792.1:) |
c.1197_1436del240 |
Alternate Protein name (NP_001104262) |
p.(Pro400_Pro479del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295879_153296118del240 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | PCR/diagnostic restriction |
Extent | Part of exon 4 |
Source of DNA | |
Carrier | Y |
Carrier result | Mutation present in unaffected mother, mutation not present in unaffected father, mutation present in affected fraternal twin brother, mutation not present in unaffected sister, mutation present in unaffected sister, mutation present in affected nephew |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | Familial |
Phenotype-class | Not Rett synd.-X-linked mental retardation |
Reference | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1161_1400del240 | p.Pro388_Pro467del | Female | Not Rett synd. | 837 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | |
2 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Mutation not present in unaffected father, mutation present in unaffected mother, mutation not present in unaffected maternal grandfather, mutation present in unaffected maternal grandmother, mutation not present in unaffected maternal aunt, mutation present in both maternal uncles | Not Rett synd. | 836 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 |
3 | c.1161_1400del240 | p.Pro388_Pro467del | Female | Relative of proband | Not Rett synd. | 835 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 |
4 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Mutation present in unaffected mother, mutation not present in unaffected father, mutation present in affected fraternal twin brother, mutation not present in unaffected sister, mutation present in unaffected sister, mutation present in affected nephew | Not Rett synd. | 834 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 |
5 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Mutation present in unaffected mother, mutation not present in unaffected father, mutation present in affected fraternal twin brother, mutation not present in unaffected sister, mutation present in unaffected sister, mutation present in affected nephew | Not Rett synd. | 833 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 |