Proband information



Proband id 43
Systematic Name c.1164_1206del43
Protein name p.Pro389fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 43 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 260 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
3 c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 261 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
4 c.1164_1206del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3415 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972