Proband information


Proband id 3297
Systematic Name
(NM_004992.3:)
c.1157_1188del32
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.1193_1224del32
Alternate Protein name
(NP_001104262)
p.(Leu398Argfs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296091_153296122del32
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1157_1188del32 p.Leu386fs Female Sister with classical Rett has mutation, unaffected mother has mutation, brother who died of congenital encephalopathy not screened for mutation 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 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 Female Sister with preserved speech Rett has mutation, unaffected mother has mutation, brother who died of congenital encephalopathy not screened for mutation 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 Female Daughter with preserved speech Rett has mutation, daughter with classical Rett has mutation, son who died of congenital encephalopathy not screened for mutation 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 Female Rett syndrome-Classical 2115 :Cardiff, UK::
6 c.1157_1188del32 p.Leu386fs Female Rett syndrome-Atypical 2116 :Cardiff, UK::
7 c.1157_1188del32 p.Leu386fs 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 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 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 Female NK 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 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 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