Proband information
Proband id | 1573 |
---|---|
Systematic Name (NM_004992.3:) |
c.1189G>A |
Protein name (NP_004983) |
p.Glu397Lys |
Alternate systematic Name (NM_001110792.1:) |
c.1225G>A |
Alternate Protein name (NP_001104262) |
p.(Glu409Lys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296090C>T |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | dhplc |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Unaffected mother has variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-autism only |
Reference | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1189G>A | p.Glu397Lys | Female | No unaffected relatives found to have disease-causing mutations | Rett syndrome-Not certain | 205 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 |
2 | c.1189G>A | p.Glu397Lys | Female | Father is carrier of polymorphism 1189G>A, Mother is not carrier | Rett syndrome-Classical | 398 | ::: |
3 | c.1189G>A | p.Glu397Lys | Male | Relative of proband | Not Rett synd. | 399 | ::: |
4 | c.1189G>A | p.Glu397Lys | Female | Relative of proband | Not Rett synd. | 437 | ::: |
5 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-Not certain | 1129 | 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 | |
6 | c.1189G>A | p.Glu397Lys | Male | Not Rett synd. | 1394 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 | |
7 | c.1189G>A | p.Glu397Lys | Female | Variation found in unaffected sister, variation found in unaffected father | Rett syndrome-Not certain | 1499 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
8 | c.1189G>A | p.Glu397Lys | Female | Variation found in affected sister, variation found in affected father | Not Rett synd. | 1500 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
9 | c.1189G>A | p.Glu397Lys | Male | Variation found in affected daughter and in unaffected daughter | Not Rett synd. | 1501 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
10 | c.1189G>A | p.Glu397Lys | Unknown | Variation found in mother | Not Rett synd. | 1502 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
11 | c.1189G>A | p.Glu397Lys | Female | Variation found in unaffected child | Not Rett synd. | 1503 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
12 | c.1189G>A | p.Glu397Lys | Female | Unaffected mother has variation | Not Rett synd. | 1573 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
13 | c.1189G>A | p.Glu397Lys | Female | Relative of proband | Not Rett synd. | 1589 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
14 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-Not certain | 1835 | :Bunyan, D.:: | |
15 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-Not certain | 1909 | ::: | |
16 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-Not certain | 1910 | ::: | |
17 | c.1189G>A | p.Glu397Lys | Male | Not Rett synd. | 1974 | MECP2 Mutation Analysis in Patients With Mental Retardation:Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, and Irma Järvelä:American Journal of Medical Genetics: 15578581 | |
18 | c.1189G>A | p.Glu397Lys | Male | Not Known | 2009 | ::: | |
19 | c.1189G>A | p.Glu397Lys | Female | Not Known | 2026 | ::: | |
20 | c.1189G>A | p.Glu397Lys | Female | Not Known | 2039 | ::: | |
21 | c.1189G>A | p.Glu397Lys | Female | Not Known | 2130 | :Cardiff, UK:: | |
22 | c.1189G>A | p.Glu397Lys | Male | Not Known | 2152 | :Cardiff, UK:: | |
23 | c.1189G>A | p.Glu397Lys | Female | Mother has variation | Not Rett synd. | 2522 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
24 | c.1189G>A | p.Glu397Lys | Female | Father has variation | Not Rett synd. | 2523 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
25 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 2656 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 | |
26 | c.1189G>A | p.Glu397Lys | Male | Not Rett synd. | 2667 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | |
27 | c.1189G>A | p.Glu397Lys | Female | Not Rett synd. | 2774 | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 | |
28 | c.1189G>A | p.Glu397Lys | Male | Not Rett synd. | 3028 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | |
29 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-not certain | 3077 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | |
30 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 3919 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 | |
31 | c.1189G>A | p.Glu397Lys | Female | in father and unaffected sister | Rett syndrome-not certain | 4076 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
32 | c.1189G>A | p.Glu397Lys | Female | in father and sister with RTT | Not Rett synd. | 4077 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
33 | c.1189G>A | p.Glu397Lys | Female | in one daughter with RTT and one daughter without RTT | Not Rett synd. | 4078 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
34 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 4610 | Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 | |
35 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 4611 | Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 | |
36 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 4612 | Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 | |
37 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 4613 | Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 | |
38 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-not certain | 4757 | 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 | |
39 | c.1189G>A | p.Glu397Lys | Female | Not Rett synd. | 4819 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | |
40 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-atypical | 4861 | 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 | |
41 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-not certain | 5068 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
42 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-not certain | 5211 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | |
43 | c.1189G>A | p.Glu397Lys | Female | Rett syndrome-not certain | 5212 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | |
44 | c.1189G>A | p.Glu397Lys | Unknown | Not Rett synd. | 5213 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | |
45 | c.1189G>A | Female | Not Rett synd. | 6867 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | ||
46 | c.1189G>A | Female | Not Rett synd. | 6866 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | ||
47 | c.1189G>A | p.Glu397Lys | Female | Not Rett synd. | 6914 | ::: | |
48 | c.1189G>A | p.(Glu397Lys) | Female | Not Rett synd. | 6905 | ::: | |
49 | c.1189G>A | p.Glu397Lys | Female | Not Known | 6902 | ::: |