Fragile X syndrome in Korea: A case series and a review of the literature

Journal of Korean Medical Science

Volumn 23, Issue 3, 2008, Pages 470-476

  Yim, Shin Young ^a   Bo, Hyun Jeon ^a   Yang, Jung A ^a   Kim, Hyon J ^a  

^a Ajou University School of Medicine   (South Korea)

Author keywords

FMR1; Fragile X mental retardation protein; Fragile X syndrome; Mental retardation; Mutation

Indexed keywords

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN;

ARTICLE; CASE REPORT; CHILD; FEMALE; FRAGILE X SYNDROME; GENETICS; HUMAN; INFANT; KOREA; MALE; MUTATION; PRESCHOOL CHILD; PREVALENCE;

CHILD; CHILD, PRESCHOOL; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INFANT; KOREA; MALE; MUTATION; PREVALENCE;

EID: 46849104680     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2008.23.3.470     Document Type: Article

References (33)

1. Phalen JA. Fragile X syndrome. Pediatr Rev 2005; 26: 181-2.
2. O'Connell CD, Atha DH, Jakupciak JP, Amos JA, Richie K. Standardization of PCR amplification for fragile X trinucleotide repeat measurements. Clin Genet 2002; 61: 13-20.
3. Panagopoulos I, Lassen C, Kristoffersson U, Aman P. A methylation PCR approach for detection of fragile X syndrome. Hum Mutat 1999; 14: 71-9.
4. Gold B, Radu D, Balanko A, Chiang CS. Diagnosis of Fragile X syndrome by Southern blot hybridization using a chemiluminescent probe: a laboratory protocol. Mol Diagn 2000; 5: 169-78.
5. Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001; 3: 200-5.
6. Choi YM, Hwang DY, Jun JK, Choe J, Park SH, Noh MK, Oh SK, Ku SY, Suh CS, Kim SH, Yang SW, Cho SC, Moon SY, Lee JY. Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation. Korean J Obstet Gynecol 1999; 42: 2458-64.
7. Chung HJ, Cha KE, Lee SH. Fragile X Syndrome : Clinical Characteristics and EEG Findings. J Korean Pediatr Soc 1997; 40: 1110-9.
8. Hong KM, Kim JH, Moon SY, Oh SK. Chromosomal abnormalities in child psychiatric patients. J Korean Med Sci 1999; 14: 377-85.
9. Hong SD, Lee S, Oh MR, Jin DK. DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea. J Genet Med 1998; 2: 83-6.
10. Hur CY, Choi YM, Park SH, Yoon BK, Lee KS, Na YJ, Lee BS, Rheu CH, Lee HJ, Seol HW, Oh SK, Ku SY, Suh CS, Kim SH, Kim JG, Moon SY. Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure. Korean J Obstet Gynecol 2003; 46: 978-83.
11. Kang KM, Kwak DI, Lee MS. Molecular Genetic Study for FMR-1 Gene in Autistic Children. J Korean Neuropsychiatr Assoc 1999; 38: 1479-87.
12. Kim GJ, Kim SY, Hwang BC, Park CY, Choi YD, Whang YJ. Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA. Korean J Obstet Gynecol 2001; 44: 558-65.
13. Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK. Molecular screening for fragile x syndrome in mentally handicapped children in Korea. J Korean Med Sci 2001; 16: 271-5.
14. Lee SH, Kim UK, Kwak IP, Kim JW, Lee WS, Kim SB, Cha KY. Molecular Genetics in Fragile X syndrome (1). Korean J Obstet Gynecol 1995; 38: 2293-302.
15. Moon HR, Moon SY. Fragile site X chromosomes in mentally retarded boys. J Korean Med Sci 1993; 8: 192-6.
16. Park W, Lee KJ, Choi EY. A Study on Prevalence of Premutation Sized FMR1 Gene Using Polymerase Chain Reaction. J Korean Child Neurol Soc 1999; 7: 42-7.
17. Shin SK, Yoo HW. Etiological Classification of Mentally Retarded Children Enrolled in a Special Educational Institution. J Korean Pediatr Soc 1994; 37: 1437-48.
18. Song KC, Kim GJ, Whang YJ, Choi SR, Lee SP, Whang BC, Lee ED. Allele distribution of FMR1 gene in Korean women. Korean J Obstet Gynecol 2002; 45: 990-3.
19. Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G. An assessment of screening strategies for fragile X syndrome in the UK. Health Technol Assess 2001; 5: 1-95.
20. Han XD, Powell BR, Phalin JL, Chehab FF. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male. Am J Med Genet A 2006; 140: 1463-71.
21. Sabaratnam M, Laver S, Butler L, Pembrey M. Fragile-X syndrome in North East Essex: towards systematic screening: clinical selection. J Intellect Disabil Res 1994; 38 (Pt 1): 27-35.
22. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996; 64: 196-7.
23. Crawford DC, Meadows KL, Newman JL, Taft LF, Scott E, Leslie M, Shubek L, Holmgreen P, Yeargin-Allsopp M, Boyle C, Sherman SL. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 2002; 110: 226-33.
24. Goldman A, Jenkins T, Krause A. Molecular evidence that fragile X syndrome occurs in the South African black population. J Med Genet 1998; 35: 878.
25. Arinami T, Kondo I, Nakajima S. Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet 1986; 73: 309-12.
26. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene - and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995; 57: 1006-18.
27. Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Vaisanen ML, von Koskull H, Sherman SL. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003; 72: 454-64.
28. Moore CJ, Daly EM, Schmitz N, Tassone F, Tysoe C, Hagerman RJ, Hagerman PJ, Morris RG, Murphy KC, Murphy DG. A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia 2004; 42: 1934-47.
29. Van Esch H. The Fragile X premutation: new insights and clinical consequences. Eur J Med Genet 2006; 49: 1-8.
30. Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000; 91: 144-52.
31. Aziz M, Stathopulu E, Callias M, Taylor C, Turk J, Oostra B, Willemsen R, Patton M. Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet B Neuropsychiatr Genet 2003; 121: 119-27.
32. Koukoui SD, Chaudhuri A. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Res Rev 2007; 53: 27-38.
33. Lombroso PJ. Genetics of childhood disorders: XLVIII. Learning and memory, Part 1: Fragile X syndrome update. J Am Acad Child Adolesc Psychiatry 2003; 42: 372-5.