Fragile X Syndrome in Korea: A Case Series and a Review of the Literature.
10.3346/jkms.2008.23.3.470
- Author:
Shin Young YIM
1
;
Bo Hyun JEON
;
Jung A YANG
;
Hyon J KIM
Author Information
1. Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine, Suwon, Korea.
- Publication Type:Case Reports ; Review
- Keywords:
Fragile X Syndrome;
FMR1;
Fragile X Mental Retardation Protein;
Mutation;
Mental Retardation
- MeSH:
Child;
Child, Preschool;
Female;
Fragile X Mental Retardation Protein/*genetics;
Fragile X Syndrome/diagnosis/*epidemiology/*genetics;
Humans;
Infant;
Korea/epidemiology;
Male;
Mutation;
Prevalence
- From:Journal of Korean Medical Science
2008;23(3):470-476
- CountryRepublic of Korea
- Language:English
-
Abstract:
The purposes of this study were to present DNA analysis findings of our case series of fragile X syndrome (FXS) based on methylation-specific polymerase chain reaction (MS-PCR), PCR, and Southern blotting alongside developmental characteristics including psychological profiles and to review the literature on FXS in Korea. The reports of 65 children (male:female, 52:13; age, 6.12+/-4.00 yrs) referred for the diagnosis of FXS over a 26-months period were retrospectively reviewed for the identification of full mutation or premutation of fragile X mental retardation 1 (FMR1). Among the 65 children, there were 4 boys with full mutation, and one boy showed premutation of FMR1, yielding a 6.15% positive rate of FXS. All 4 children with full mutation showed significant developmental delay, cognitive dysfunction, and varying degrees of autistic behaviors. The boys with premutation showed also moderate mental retardation, severe drooling, and behavioral problems as severe as the boys with full mutation. Thirteen articles on FXS in Korea have been published since 1993, and they were reviewed. The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis. Finally, the population-based prevalence study on FXS in Korea is required in the near future.
