Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1

Genetic Testing and Molecular Biomarkers

Volumn 16, Issue 6, 2012, Pages 465-470

  Basehore, Monica J ^a   Marlowe, Natalia M ^b   Jones, Julie R ^a   Behlendorf, Deborah E ^b   Laver, Thomas A ^b   Friez, Michael J ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b CELERA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE;

ARTICLE; AUTISM; COHORT ANALYSIS; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN METHYLATION; TRINUCLEOTIDE REPEAT; VALIDATION STUDY;

ALLELES; COHORT STUDIES; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; POLYMERASE CHAIN REACTION; TIME FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84862994132     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0134     Document Type: Article

References (13)

1. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. (1999) 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 83:322-325. (Pubitemid 29162637)
2. Chen L, Hadd A, Sah S, et al. (2010) An information-rich CGG repeat-primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn 12:589-600.
3. Coffee B (2010) Commentary on population screening for fragile X syndrome. Genet in Med 12:411-412.
4. Filipovic-Sadic S, Sah S, Chen L, et al. (2010) A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in Fragile X syndrome. Clin Chem 56:399-408.
5. Hagerman RJ, Leehey M, Heinrichs W, et al. (2001) Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130. (Pubitemid 32634862)
6. Hantash FM, Goos DG, Tsao D, et al. (2010) Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genet Med 12:162-173.
7. Hemant K, Amit A, Manju, M, et al. (2011) Diagnostic or screening test evaluation 1.0 In: Dean AG, Sullivan KM, Soe MM. OpenEpi: Open Source Epidemiologic Statistics for Public Health, Version 2.3.1. Available at www.OpenEpi.com, updated 2011/23/06 (accessed 2011/08/04).
8. Hill MK, Archibald AD, Cohen J, et al. (2010) A systematic review of population screening for fragile X syndrome. Genet Med 12:396-410.
9. Kronquist KE, Sherman SL, and Spector EB (2008) Clinical significance of trinucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med 10:845-847.
10. Lyon E, Laver T, Yu P, et al. (2010) A simple, high-throughput assay for Fragile X expanded alleles using triplet repeat primed PCR and capillary electrophoresis. J Mol Diagn 12:505-511.
11. Rousseau F, Heitz D, Biancalana V, et al. (1991) Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
12. Spector EB, Kronquist KE (2005) Technical standards and guidelines for fragile X testing: a revision to the diseasespecific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Available at www.acmg.net/Pages/ACMG-Activities/ stds-2002/fx.htm (accessed February 11, 2011).
13. Tassone F, Pan R, Amiri K, et al. (2008) A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the Fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 10:43-49. (Pubitemid 351184834)