Proband information


Proband id 4622
Systematic Name
(NM_004992.3:)		 c.426C>T
Protein name
(NP_004983)		 p.Phe142Phe
Alternate systematic Name
(NM_001110792.1:)		 c.462C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296853G>A
Mutation type silent
Domain MBD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 162 chromosomes tested and not found in 162 chromosomes
Detection direct
Extent
Source of DNA blood, lymphoblastoid cell lin
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Not Rett synd.-autism spectrum disorder
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.426C>T p.Phe142Phe Female Rett syndrome-Not certain 45 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.426C>T p.Phe142Phe Female Father is not carrier, autistic relative has silent polymorphism, normal sister has silent polymorphism, unusual male relative is not carrier, another family member is not carrier Rett syndrome-Atypical 364 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
3 c.426C>T p.Phe142Phe Female Relative of proband Not Rett synd. 365 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
4 c.426C>T p.Phe142Phe Male Not Rett synd. 1885 :::
5 c.426C>T p.Phe142Phe Female Relative of proband Not Rett synd. 2505 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
6 c.426C>T p.Phe142Phe Female Relative of proband Not Rett synd. 2506 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
7 c.426C>T p.Phe142Phe Unknown Not Rett synd. 4622 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
8 c.426C>T p.Phe142Phe Male Not Rett synd. 6907 :::