Mundhofir FE, Winarni TI, Nillesen W, Bon BWV, Schepens M, Ruiterkamp-Versteeg M, Hamel BC, Yntema HG, Faradz SM. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012; 2(3): 15-22 [DOI: 10.5496/wjmg.v2.i3.15]
Corresponding Author of This Article
Sultana MH Faradz, MD, PhD, Professor, Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, GSG 2nd floor Jl. Dr. Sutomo 14, Semarang 50244, Indonesia. sultana@indosat.net.id
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World J Med Genet. Jun 27, 2012; 2(3): 15-22 Published online Jun 27, 2012. doi: 10.5496/wjmg.v2.i3.15
Prevalence of fragile X syndrome in males and females in Indonesia
Farmaditya EP Mundhofir, Tri I Winarni, Willy Nillesen, Bregje WM van Bon, Marga Schepens, Martina Ruiterkamp-Versteeg, Ben CJ Hamel, Helger G Yntema, Sultana MH Faradz
Farmaditya EP Mundhofir, Tri I Winarni, Sultana MH Faradz, Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang 50244, Indonesia
Farmaditya EP Mundhofir, Willy Nillesen, Bregje WM van Bon, Marga Schepens, Martina Ruiterkamp-Versteeg, Ben CJ Hamel, Helger G Yntema, Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
Author contributions: Faradz SMH, Hamel BCJ and Yntema HG designed the research; Mundhofir FEP, Winarni TI and van Bon BWM performed the patients’ clinical investigations; Mundhofir FEP, Schepens M and Ruiterkamp-Versteeg M performed the research; Mundhofir FEP, Nillesen W and Yntema HG analyzed the data; Mundhofir FEP, Nillesen W, Yntema HG, Faradz SMH and Hamel BCJ wrote the paper.
Supported by Risbin-Iptekdok 2007/2008, Ministry of Health Republic of Indonesia; Excellent Scholarship (Beasiswa Unggulan Program), Foreign Scholarship (Beasiswa Luar Negeri), Directorate of Higher Education (DGHE), Ministry of National Education Republic of Indonesia; and the PhD-fellowship Program of the Radboud University (RU-fellowship)
Correspondence to: Sultana MH Faradz, MD, PhD, Professor, Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, GSG 2nd floor Jl. Dr. Sutomo 14, Semarang 50244, Indonesia. sultana@indosat.net.id
Telephone: +62-24-8412311 Fax: +62-24-8454714
Received: May 24, 2012 Revised: June 11, 2012 Accepted: June 17, 2012 Published online: June 27, 2012
Abstract
AIM: To investigate the prevalence of fragile X syndrome (FXS) in intellectually disabled male and female Indonesians.
METHODS: This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability (ID). In this previous study, 87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. The testing was also conducted in the five previously identified samples to confirm the abnormality. In total, a molecular study was conducted in 445 samples (162 females and 283 males).
RESULTS: In the cohort of Indonesian ID population, the prevalence of FXS is 9/527 (1.7%). The prevalence in males and females is 1.5% (5/329) and 2% (4/198), respectively. Segregation analysis in the families and X-inactivation studies were performed. We performed the first comprehensive genetic survey of a representative sample of male and female ID individuals from institutions and special schools in Indonesia. Our findings show that a comprehensive study of FXS can be performed in a developing country like Indonesia where diagnostic facilities are limited.
CONCLUSION: The prevalence of FXS is equal in females and males in our study, which suggests that the prevalence of FXS in females could be underestimated.
