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Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Estonia, helenp{at}ut.ee, Department of Pediatrics, University of Tartu, Estonia

Tiina Kahre, MD, PhD

Department of Genetics, United Laboratories, Tartu University Hospital, Estonia, Department of Pediatrics, University of Tartu, Estonia

Hiljar Sibul, MD, MSc

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Estonia, Estonian Biocentre, Tartu, Estonia

Viljo Soo, MSc

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Estonia

Ilona Lind, MD

Department of Genetics, United Laboratories, Tartu University Hospital, Estonia, Department of Pediatrics, University of Tartu, Estonia

Elve Raukas, MSc

Estonian Biocentre, Tartu, Estonia, Department of Genetics, United Laboratories, Tartu University Hospital, Estonia

Katrin Õunap, MD, PhD

Department of Pediatrics, University of Tartu, Estonia, Department of Genetics, United Laboratories, Tartu University Hospital, Estonia

The aim of this study is to establish the prevalence of fragile X syndrome among Estonian mentally retarded and also among the entire children's population born during the years 1984-2005. The study group consisted of 516 patients (448 boys and 68 girls) who were screened for full mutations in the FMR1 gene during the period 1997-2006. Fourteen boys (2.7%) were found with full mutations of the total mentally retarded individuals tested (3.1% of mentally retarded boys); the full mutation was not detected among girls. The live-birth prevalence of full mutation among boys was 1:13 947. The overall live-birth prevalence of fragile X syndrome was 1:27 115. It was found that the prevalence of fragile X syndrome among mentally retarded individuals in Estonia was the same as in previous studies, but the live-birth prevalence of fragile X syndrome among boys was significantly lower.

Key Words: fragile X syndrome • live-birth prevalence

Journal of Child Neurology, Vol. 23, No. 12, 1400-1405 (2008)
DOI: 10.1177/0883073808319071


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