ERIC Number: EJ1239282
Record Type: Journal
Publication Date: 2020-Jan
Pages: 9
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: N/A
Available Date: N/A
Variant Profile of "MECP2" Gene in Sri Lankan Patients with Rett Syndrome
Hettiarachchi, D.; Neththikumara, N. F.; Pathirana, B. A. P. S.; Dissanayake, V. H. W.
Journal of Autism and Developmental Disorders, v50 n1 p118-126 Jan 2020
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.
Descriptors: Foreign Countries, Genetic Disorders, Females, Neurological Impairments, Genetics, Profiles
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Identifiers - Location: Sri Lanka
Grant or Contract Numbers: N/A
Author Affiliations: N/A