Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
1 recherche sur le mot-clé 'Methyl-CpG binding protein 2'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome / D. HETTIARACHCHI in Journal of Autism and Developmental Disorders, 50-1 (January 2020)
[article]
Titre : Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur Article en page(s) : p.118-126 Langues : Anglais (eng) Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126[article] Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome [Texte imprimé et/ou numérique] / D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur . - p.118-126.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126
Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414