Variant information


Systematic Name c.1157_1188del32
Protein name p.Leu386fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Daughter with preserved speech Rett has mutation, daughter with classical Rett has mutation, son who died of congenital encephalopathy not screened for mutation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 1181 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
2 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1257 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
3 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1545 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
4 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 1546 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
5 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2115 :Cardiff, UK::
6 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2116 :Cardiff, UK::
7 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2973 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
8 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3297 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
9 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3304 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
10 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3357 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
11 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3509 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
12 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4709 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