Proband information
Proband id | 3987 |
---|---|
Systematic Name (NM_004992.3:) |
c.-143_-138dup |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.18_23dup |
Alternate Protein name (NP_001104262) |
p.(Ala7_Ala8dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363100_153363105dup |
Mutation type | in-frame insertion or deletion |
Domain | N-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | DHPLC |
Extent | exon 1 |
Source of DNA | blood |
Carrier | Y |
Carrier result | two daughters with intellectual disability and seizures, found in one only with more severe autistic features |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | familial |
Phenotype-class | Not Rett synd.-seizures at adolescence |
Reference | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.-143_-138dup | p.(=) | Female | Rett syndrome-Atypical | 2162 | :Cardiff, UK:: | |
2 | c.-143_-138dup | p.(=) | Female | mother (phenotype: seizures) carrier, not in affected sister with milder phenotype | Rett syndrome-atypical | 2758 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 |
3 | c.-143_-138dup | p.(=) | Female | Rett syndrome-classical | 2912 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | |
4 | c.-143_-138dup | p.(=) | Female | two daughters with intellectual disability and seizures, found in one only with more severe autistic features | Not Rett synd. | 3987 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 |
5 | c.-143_-138dup | p.(=) | Female | identified in phenotypically normal father, absent in mother | Not Known | 5113 | ::: |
6 | c.-143_-138dup | p.(=) | Male | found in affected daughter | Not Rett synd. | 5114 | ::: |