Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
Copyright policy )Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
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.
- MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK United Kingdom
- University of Colombo Sri Lanka
Adult, Genotype, Methyl-CpG-Binding Protein 2, Phenotype, Rare Diseases, Mutation, Rett Syndrome, Humans, Female, Sri Lanka
Adult, Genotype, Methyl-CpG-Binding Protein 2, Phenotype, Rare Diseases, Mutation, Rett Syndrome, Humans, Female, Sri Lanka
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