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 |
::: |