Variant information


Systematic Name c.856_859delAAAG
Protein name p.Lys286fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
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 References
1 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 35 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.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1607 :Bunyan, D.::
3 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1841 :Bunyan, D.::
4 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Atypical 2104 :Cardiff, UK::
5 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2501 A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene:Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P:Bratislava Medical Journal: 15633890
6 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2610 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
7 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3279 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
8 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3355 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
9 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3793 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
10 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6630 :::