No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.608C>T |
p.Thr203Met |
Female |
|
Rett syndrome-atypical |
217 |
MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
2 |
c.608C>T |
p.Thr203Met |
Female |
Unaffected father has variation |
Rett syndrome-Not certain |
1126 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
3 |
c.608C>T |
p.Thr203Met |
Unknown |
|
Rett syndrome-Not certain |
1371 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
4 |
c.608C>T |
p.Thr203Met |
Male |
Relative of proband |
Not Rett synd. |
1547 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
5 |
c.608C>T |
p.Thr203Met |
Female |
Unaffected father has variation |
Rett syndrome-Not certain |
1850 |
:Bunyan, D.:: |
6 |
c.608C>T |
p.Thr203Met |
Male |
Relative of proband |
Not Rett synd. |
1851 |
:Bunyan, D.:: |
7 |
c.608C>T |
p.Thr203Met |
Female |
|
Not Known |
2123 |
:Cardiff, UK:: |
8 |
c.608C>T |
p.Thr203Met |
Male |
absent in mother |
Rett syndrome-male variant |
4222 |
Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |
9 |
c.608C>T |
p.Thr203Met |
Female |
father is normal, mother is a carrier for the mutation (608C-T; p.T203M) |
Not Known |
4471 |
:Das, S., Dempsey, M. U. Chicago:: |
10 |
c.608C>T |
p.Thr203Met |
Female |
|
Not Rett synd. |
4472 |
:Das, S., Dempsey, M. U. Chicago:: |
11 |
c.608C>T |
p.Thr203Met |
Female |
|
Not Known |
4473 |
:Das, S., Dempsey, M. U. Chicago:: |
12 |
c.608C>T |
p.Thr203Met |
Female |
|
Rett syndrome-not certain |
4752 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
13 |
c.608C>T |
p.Thr203Met |
Female |
|
Rett syndrome-atypical |
4859 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
14 |
c.608C>T |
p.Thr203Met |
Male |
not in mother |
Not Rett synd. |
4860 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
15 |
c.608C>T |
p.Thr203Met |
Male |
|
Not Rett synd. |
6911 |
::: |