Proband information


Proband id 1121
Systematic Name
(NM_004992.3:)
c.1164_1207del44
Protein name
(NP_004983)
p.Pro389*
Alternate systematic Name
(NM_001110792.1:)
c.1200_1243del44
Alternate Protein name
(NP_001104262)
p.(Pro401*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296072_153296115del44
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 14 :Bunyan, D.::
2 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 22 :Bunyan, D.::
3 c.1164_1207del44 p.Pro389* Female Rett syndrome-Preserved speech 349 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
4 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1121 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.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1594 :Bunyan, D.::
6 c.1164_1207del44 p.Pro389* Female Neither parent has variation Rett syndrome-Not certain 1611 :Bunyan, D.::
7 c.1164_1207del44 p.Pro389* Female Not Known 1693 :Friez, Michael::
8 c.1164_1207del44 p.Pro389* Female Neither parent has variation Rett syndrome-Not certain 1848 :Bunyan, D.::
9 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2184 :Cardiff, UK::
10 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2185 :Cardiff, UK::
11 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2186 :Cardiff, UK::
12 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2187 :Cardiff, UK::
13 c.1164_1207del44 p.Pro389* Female Atypical Rett syndrome twin sister has variation Rett syndrome-Atypical 2188 :Cardiff, UK::
14 c.1164_1207del44 p.Pro389* Female Atypical Rett syndrome twin sister has variation Rett syndrome-Atypical 2189 :Cardiff, UK::
15 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2190 :Cardiff, UK::
16 c.1164_1207del44 p.Pro389* Female Not Known 2487 Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727
17 c.1164_1207del44 p.Pro389* Female parents negative Rett syndrome-Classical 2627 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
18 c.1164_1207del44 p.Pro389* Female sister negative Rett syndrome-Classical 2628 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
19 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2629 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
20 c.1164_1207del44 p.Pro389* Male mother asymptomatic carrier, de novo in mother Rett syndrome-male variant 2755 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334
21 c.1164_1207del44 p.Pro389* Female Rett syndrome-preserved speech 2884 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
22 c.1164_1207del44 p.Pro389* Female Rett syndrome-forme fruste 2885 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
23 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 3011 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
24 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3065 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
25 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3066 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
26 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3315 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
27 c.1164_1207del44 p.Pro389* Female son with Rett syndrome Not Rett synd. 3982 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334
28 c.1164_1207del44 p.Pro389* Female Not Rett synd. 5300 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973
29 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 4308 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
30 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 4316 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
31 c.1164_1207del44 p.Pro389* Male Not Known 4417 :Das, S., Dempsey, M. U. Chicago::
32 c.1164_1207del44 p.Pro389* Female Not Known 4418 :Das, S., Dempsey, M. U. Chicago::
33 c.1164_1207del44 p.Pro389* Female in affected daughter, affected son, affected grandchildren Not Rett synd. 4790 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
34 c.1164_1207del44 p.Pro389* Female in affected mother, brother and children Not Rett synd. 4791 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
35 c.1164_1207del44 p.Pro389* Male in affected mother, affected sister, sister's children Not Rett synd. 4792 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
36 c.1164_1207del44 p.Pro389* Male in affected maternal grandmother, mother, maternal aunt, sister Not Rett synd. 4793 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
37 c.1164_1207del44 p.Pro389* Female in affected maternal grandmother, mother, maternal aunt, borhter Rett syndrome-classical 4794 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026
38 c.1164_1207del44 p.Pro389* Female de novo Not Rett synd. 4856 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
39 c.1164_1207del44 p.Proro389* Female Mother,Father-Negative Rett syndrome-preserved speech 6758 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
40 c.1164_1207del44 p.Proro389* Female Mother,Father-Negative Rett syndrome-classical 6757 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
41 c.1164_1207del44 p.Proro389* Female Mother,Father-Negative Rett syndrome-atypical 6756 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
42 c.1164_1207del44 p.Proro389* Female mother-negative,sibling(prenatal diagnosis)-negative Not Known 6755 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
43 c.1164_1207del44 p.Pro389* Male mother has Not Rett synd. 6673 :::
44 c.1164_1207del44 p.Pro389* Female in son with mental retardation Not Rett synd. 6674 :::
45 c.1164_1207del44 p.Pro389* Female Rett syndrome-forme fruste 6664 :::
46 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 6663 :::
47 c.1164_1207del44 p.Pro389* Female Not Rett synd. 6662 :::
48 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 6661 :::