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Journal of Autism and Developmental Disorders

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18-09-2019 | Original Paper

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome

Auteurs: D. Hettiarachchi, N. F. Neththikumara, B. A. P. S. Pathirana, V. H. W. Dissanayake

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 1/2020

Abstract

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.

vorige artikel An Exploration of Law Enforcement Officers’ Training Needs and Interactions with Individuals with Autism Spectrum Disorder

volgende artikel A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes

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Titel: Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
Auteurs: D. Hettiarachchi
N. F. Neththikumara
B. A. P. S. Pathirana
V. H. W. Dissanayake
Publicatiedatum: 18-09-2019
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 1/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-019-04230-7

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