No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.753dupC |
p.Gly252fs |
Female |
Brain sample |
Rett syndrome-Not certain |
369 |
::: |
2 |
c.753dupC |
p.Gly252fs |
Male |
Affected sister has variation, unaffected mother does not have variation, unaffected father does not have variation |
Not Rett synd. |
1199 |
Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 |
3 |
c.753dupC |
p.Gly252fs |
Female |
Affected brother has variation, unaffected mother does not have variation, unaffected father does not have variation |
Rett syndrome-Classical |
1200 |
Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 |
4 |
c.753dupC |
p.Gly252fs |
Female |
|
Rett syndrome-Classical |
2598 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.":Journal of Human Genetics: 17387578 |