Fragile X syndrome detection in newborns - Pilot study

Genetics in Medicine

Volumn 10, Issue 10, 2008, Pages 714-719

  Saul, Robert A ^a   Friez, Michael ^a   Eaves, Karissa ^a   Stapleton, Gail A ^a   Collins, Julianne S ^a   Schwartz, Charles E ^a   Stevenson, Roger E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

FMR1 related disorders; Fragile X syndrome; Newborn screening

Indexed keywords

ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; FEASIBILITY STUDY; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; INFANT; MALE; MOTHER; NEWBORN SCREENING; PILOT STUDY; PROSPECTIVE STUDY; PUERPERIUM; RISK BENEFIT ANALYSIS; SEX CHROMOSOME; UNITED STATES;

EID: 56049114681     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Lubs HA Jr. A marker X chromosome. Am J Hum Genet 1969;21:231-244.
2. Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:265.
3. Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252:1179-1181.
4. Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-1102.
5. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
6. Kremer EJ, Pritchard M, Lynch M, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-1714.
7. Saul RA, Tarleton JC (updated December 2007) FMR1-Related Disorders in: Gene-Reviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2007. Available at: http://www.genetests.org. Accessed January 20, 2008.
8. Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
9. Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-464.
10. Crawford DC, Meadows KL, Newman JL, et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 2002;110:226-233.
11. Centers for Disease Control and Prevention: Delayed diagnosis of fragile X syndrome - United States, 1990-1999. MMWR Morb Mortal Wkly Rep 2002;51:740-742.
12. Bailey DB Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics 2003;111:407-416.
13. Skinner D, Sparkman KL, Bailey DB Jr. Screening for Fragile X Syndrome: parent attitudes and perspectives. Genet Med 2003;5:378 -384.
14. Bailey DB Jr. Newborn screening for fragile X syndrome. Ment Retard Dev Disabil Res Rev 2004;10:3-10.
15. Warren ST, Sherman SL. The fragile X syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, editors. The metabolic and molecular bases of inherited disease (OMMBID), Chapter 64. New York: McGraw-Hill. Available at: www.ommbid.com. Accessed December 19, 2007.
16. 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.
17. Houdayer C, Lourdaux J, Billette de Villemeur T, et al. Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes. Genet Test 2002;6:135-139.
18. Bailey DB Jr, Skinner D, Davis AM, Whitmarsh I, Powell C. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 2008;121:e693-e704.
19. Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST. Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A 2007;104: 15537-15542.
20. Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci 2004;27:370-377.
21. Dolen G, Bear MF. Role for metabotropic glumatate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. J Physiol 2008;586:1503-1508.
22. Anido A, Carlson LM, Taft L, Sherman SL. Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 2005;14:295-306.
23. Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 2005;143:522-536.
24. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517-521.
25. Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns 2007;65:279-287.
26. Strom CM, Crossley B, Redman JB, et al. Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 2007;9:46-51.