[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
|
Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome in Journal of Autism and Developmental Disorders, 50-1 (January 2020)
