DOI: https://doi.org/10.14710/jbtr.v5i2.6895

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Faculty of Medicine, Diponegoro University, Indonesia

Received: 23 Dec 2019; Revised: 31 Dec 2019; Accepted: 31 Dec 2019; Available online: 31 Dec 2019; Published: 31 Dec 2019.
Open Access Copyright (c) 2019 Journal of Biomedicine and Translational Research

Citation Format:
Abstract

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3.  The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability

Fulltext View|Download
Keywords: Fragile X syndrome; High Rate; Indonesia

Article Metrics:

Article Info
Section: Letters to the Editor
Language : EN
Recent articles
Nested PCR methods for detection Toxoplasma gondii B1 gene in Cerebrospinal Fluid of HIV patients Effect of Superoxide Dismutase (SOD) Supplementation on Plasma Levels of Malondialdehyde (MDA), Total Cholesterol and LDL Cholesterol in the Elderly Effectivity Of Annona Muricata and Artemisinin Combined Therapy on Brain CXCL10 expression (Study in Swiss Mice During Severe Plasmodium Berghei ANKA Infection) Classification, nosology and diagnostics of Ehlers-Danlos syndrome Focal areas of a high rate of fragile X in Indonesia: a long term follow up More recent articles
  1. Sidorov MS, Auerbach BD, Bear MF. Fragile X mental retardation protein and synaptic plasticity. 2013 Mol Brain 6 15
  2. Lozano R, Rosero CA, Hagerman RJ. Fragile X spectrum disorders. 2014 Intractable Rare Dis Res 3 134
  3. Mundhofir FE, Winarni TI, Nillesen W, Bon BWV, Schepens M, Ruiterkamp-Versteeg M, et al. Prevalence of fragile X syndrome in males and females in Indonesia. 2012 World J Med Genet 2 15
  4. Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S. Fragile X syndrome: a review of clinical and molecular diagnoses. 2017 Ital J Pediatr 43 39
  5. Faradz SMH, Pattiiha MZ, Leigh DA, Jenkins M, Leggo J, Buckley MF, et al. Genetic diversity at the FMR1 locus in the Indonesian population. 2000 Annals of Human Genetics 64 329
  6. Faradz SMH, Buckley M, Tang L-P, Leigh D, Holden JJA. Molecular screening for fragile X syndrome among Indonesian children with developmental disability. 1999 Am J Med Genet A 83 350

Last update:

No citation recorded.

Last update:

No citation recorded.