Fragile X Syndrome in China

Ranhui Duan, PhD, Kathryn Garber, PhD, Peng Jin, PhD

Abstract


Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing of FXS patients. However, the general Chinese population is unfamiliar with FXS due to the limited public education. Even among those with medical training, there is a lack of awareness. Here our review aims to provide basic information on FXS, introduce the clinical aspects of FXS in China, and outline future research and policy recommendations that may in the future improve FXS genetic testing and counselor training in the Chinese health system.

[N A J Med Sci. 2013;6(4):181-185.   DOI:  10.7156/najms.2013.0604181]


Keywords


: Fragile X Syndrome, FMR1, CGG repeat, genetic screen

Full Text:

PDF

References


Hagerman R, Hoem G, Hagerman P. Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Mol Autism. 2010;1(1):12.

Zhang H, Zhu YP, Luo JB. Status and problems of genetic counseling in China. Chinese Journal of Birth Health and Heredity. 2012;20(2):136.

Li J, Huang W, Luo SY, Lin YT, Duan RH. Attitude of medical school students in China towards genetic testing and counseling issues in FXS. J Genet Couns. 2013. [Epub ahead of print]

Wang T, Bray SM, Warren ST. New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev. 2012;22(3):256-263.

McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile X syndrome. Curr Genomics. 2011;12(3):216-224.

Santoro MR, Bray SM, Warren ST. Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol. 2012;7:219-245.

Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15(7):575-586.

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. J Genet Couns. 2012;21(6):752-760.

McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns. 2005;14(4):249-270.

Johnson VA. Development of a biopsychosocial screening inventory for FMR1 gene mutation “at risk” status in young children. Proquest Digital Dissertations. 2005.

Johnson VA. Checklist assessments of FMR1 gene mutation phenotypes. J Cult Divers. 2008;15(3):117-131.

Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL. A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr. 1996;129(4):611-614.

Guo YZ, Chai JH, Yao D, et al. A Simplified Six-item Checklist for Screening of Fragile X Syndrome. Acta Acad Med Sin. 2000; 22(1):85-87.

Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004;291(4):460-469.

Han WW, Zhang L, Jiang H, Tang BS. Fragile X-associated tremor/ataxia syndrome. Chinese Journal of Medical Genetics. 2011;28(1):52-55.

Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. Am J Med Genet. 1999;83(4):322-325.

Hunter JE, Epstein MP, Tinker SW, Charen KH, Sherman SL. Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol. 2008;32(6):553-559.

Coffee B, Keith K, Albizua I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009; 85(4):503-514.

Lévesque S, Dombrowski C, Morel ML, et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet. 2009; 76(6):511-523.

Huang KF, Chen WY, Tsai YC, et al. Pilot screening for fragile X carrier in pregnant women of southern Taiwan. J Chin Med Assoc. 2003; 66(4):204-209.

Otsuka S, Sakamoto Y, Siomi H, et al. Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev. 2010; 32(2):110-114.

Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell. 1991; 67:1047-1058.

Filipovic-Sadic S, Sah S, Chen L, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010; 56(3):399-408.

Adler K, Moore JK, Filippov G, et al. A novel assay for evaluating fragile X locus repeats. J Mol Diagn. 2011; 13(6):614-620.

Guo XY,Liao J,Lan FH.Progress in molecular diagnosis of fragile X syndrome. Chin J Med Genet. 2012; 29(3):296-298.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V. Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. Eur J Hum Genet. 2011;19(9).

Zhang ZY, Zhang N. Current genetic counseling of China. Journal of Peking University: Health Sciences. 2006; 38(1): 33–34.

He M, Li W. China genetic counseling network (CGCN): a website on genetic counseling and genetic education. Yi Chuan. 2007; 29(3):381-384.

Huang JT, Kuo CC, Kao AP. The inequality of regional economic development in China between 1991 and 2001. Journal of Chinese Economic and Business Studies. 2003;1(3):273-285.

Chan KB. International handbook of Chinese families.454-464.

Coffee B. Commentary on population screening for fragile X syndrome. Genet Med. 2010;12(7):411-412.

Ye ZC, Cai JG, Zhu XY, et al. Molecular epidemiological investigation of fragile X syndrome in mental retardation children. Chinese Journal of Birth Health & Heredity. 2009;01:39-40.

Zhang XZ, Zhong JM, Huo XC, et al. Screening and genetics diagnosis of fragile X syndrome among mentally retarded children. Chinese Journal of Birth Health & Heredity. 2010;06:38-39.

Wang CJ, Wei HP. Fragile X chromosome analysis among mentally retarded children. Chinese Journal of Birth Health & Heredity. 2002; 04:40.

Qin XB, Yang AD, Fei HB, et al. A study of fragile X syndrome in cytogenetics and clinical characteristics. Chinese Journal of Medical Genetics. 1993;01:14-16.

Yang DT, Jia YF, Wu AH, et al. Prenatal screening and diagnosis for fragile X syndrome. Chinese Journal of Reproductive Health. 2010; 02:84-85.

Zhao WQ, Guo WC. Study of clinical characteristics and molecular biology in fragile X syndrome. Maternal and Child Health Care of China. 2009;36:5154.

Liu X, Chen YP, Zhou X, et al. Mutational analysis of FMR1 gene in autistic children of Han ethnic. Chinese Journal

Lévesque S, Dombrowski C, Morel ML, et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet. 2009; 76(6):511-523.

Huang KF, Chen WY, Tsai YC, et al. Pilot screening for fragile X carrier in pregnant women of southern Taiwan. J Chin Med Assoc. 2003; 66(4):204-209.

Otsuka S, Sakamoto Y, Siomi H, et al. Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev. 2010; 32(2):110-114.

Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell. 1991; 67:1047-1058.

Filipovic-Sadic S, Sah S, Chen L, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010; 56(3):399-408.

Adler K, Moore JK, Filippov G, et al. A novel assay for evaluating fragile X locus repeats. J Mol Diagn. 2011; 13(6):614-620.

Guo XY,Liao J,Lan FH.Progress in molecular diagnosis of fragile X syndrome. Chin J Med Genet. 2012; 29(3):296-298.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V. Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. Eur J Hum Genet. 2011;19(9).

Zhang ZY, Zhang N. Current genetic counseling of China. Journal of Peking University: Health Sciences. 2006; 38(1): 33–34.

He M, Li W. China genetic counseling network (CGCN): a website on genetic counseling and genetic education. Yi Chuan. 2007; 29(3):381-384.

Huang JT, Kuo CC, Kao AP. The inequality of regional economic development in China between 1991 and 2001. Journal of Chinese Economic and Business Studies. 2003;1(3):273-285.

Chan KB. International handbook of Chinese families.454-464.

Coffee B. Commentary on population screening for fragile X syndrome. Genet Med. 2010;12(7):411-412.

Ye ZC, Cai JG, Zhu XY, et al. Molecular epidemiological investigation of fragile X syndrome in mental retardation children. Chinese Journal of Birth Health & Heredity. 2009;01:39-40.

Zhang XZ, Zhong JM, Huo XC, et al. Screening and genetics diagnosis of fragile X syndrome among mentally retarded children. Chinese Journal of Birth Health & Heredity. 2010;06:38-39.

Wang CJ, Wei HP. Fragile X chromosome analysis among mentally retarded children. Chinese Journal of Birth Health & Heredity. 2002; 04:40.

Qin XB, Yang AD, Fei HB, et al. A study of fragile X syndrome in cytogenetics and clinical characteristics. Chinese Journal of Medical Genetics. 1993;01:14-16.

Yang DT, Jia YF, Wu AH, et al. Prenatal screening and diagnosis for fragile X syndrome. Chinese Journal of Reproductive Health. 2010; 02:84-85.

Zhao WQ, Guo WC. Study of clinical characteristics and molecular biology in fragile X syndrome. Maternal and Child Health Care of China. 2009;36:5154.

Liu X, Chen YP, Zhou X, et al. Mutational analysis of FMR1 gene in autistic children of Han ethnic. Chinese Journal of Child Health Care. 2011;08:701-703.

Zhang L,Zhang YZ. Acceptance of prenatal screening for FMR1 mutation in Chinese female population. Chinese Journal of Birth Health & Heredity. 2012;20(5):70-72.

Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol. 2005;192(6):1905-1912.

Li J, Chen J, Zhang J, Qian X, Chen YY. Study on standard cost of prenatal diagnosis on Down syndrome. Chinese Health Resources. 2005;03.

Xiong Q, Wang H. A twenty-year retrospective review and reflection of special education for children with intellectual disability. Journal of Nanjing Technical College of Special Education. 2011;03.

Berry-Kravis E, Potanos K. Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev. 2004;10(1):42-48.

Rueda JR, Ballesteros J, Tejada MI. Systematic review of pharmacological treatments in fragile X syndrome. BMC Neurol. 2009;9:53.

Kumar B, Prakash A, Sewal RK, Medhi B, Modi M. Drug therapy in autism: a present and future perspective. Pharmacol Rep. 2012; 64(6):1291-1304.

Chonchaiya W, Schneider A, Hagerman RJ. Fragile X: a family of disorders. Adv Pediatr. 2009;56:165-186.

Berry-Kravis EM, Hessl D, Rathmell B, et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012; 4(152):152ra127.

Jacquemont S, Curie A, des Portes V, et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011; 3(64):64ra1.


Refbacks

  • There are currently no refbacks.