Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.
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.
Puusepp
Helen
H
Department of Pediatrics, University of Tartu, Estonia. helenp@ut.ee
Kahre
Tiina
T
Sibul
Hiljar
H
Soo
Viljo
V
Lind
Ilona
I
Raukas
Elve
E
Ounap
Katrin
K
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018672:Community Health Planning; D004252:DNA Mutational Analysis; D004957:Estonia / Q000453:epidemiology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D001523:Mental Disorders / Q000150:complications* / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human