Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1–related disorders

References

• 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(6):1047-58
   PubMed Web of Science ®Google Scholar
• Oberle 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(5009):1097-102
   PubMedGoogle Scholar
• Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252(5009):1179-81
   PubMedGoogle Scholar
• Morton JE, Bundey S, Webb TP, et al. Fragile X syndrome is less common than previously estimated. J Med Genet 1997;34(1):1-5
   PubMedGoogle Scholar
• Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996;64(1):196-7
   PubMed Web of Science ®Google Scholar
• Monaghan KG, Lyon E, Spector EB, et al. 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):575-86
   PubMed Web of Science ®Google Scholar
• Eichler EE, Holden JJ, Popovich BW, et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994;8(1):88-94
   PubMed Web of Science ®Google Scholar
• Nolin SL, Sah S, Glicksman A, et al. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A 2013;161(4):771-8
   Web of Science ®Google Scholar
• Fernandez-Carvajal I, Lopez Posadas B, Pan R, et al. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 2009;11(4):306-10
   PubMed Web of Science ®Google Scholar
• Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 2012;27(2):296-300
   PubMedGoogle Scholar
• 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):460-9
   PubMed Web of Science ®Google Scholar
• Seltzer MM, Baker MW, Hong J, et al. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet 2012;159B(5):589-97
   PubMedGoogle Scholar
• Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97(3):189-94
   PubMed Web of Science ®Google Scholar
• Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 2008;68(4):499-509
   PubMed Web of Science ®Google Scholar
• Heine-Suner D, Torres-Juan L, Morla M, et al. Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. Am J Med Genet A 2003;122A(2):108-14
   PubMedGoogle Scholar
• de Vries BB, Wiegers AM, Smits AP, et al. Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996;58(5):1025-32
   PubMedGoogle Scholar
• Rousseau F, Heitz D, Tarleton J, et al. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 1994;55(2):225-37
   PubMedGoogle Scholar
• Nolin SL, Glicksman A, Houck GEJr, et al. Mosaicism in fragile X affected males. Am J Med Genet 1994;51(4):509-12
   PubMed Web of Science ®Google Scholar
• Hagerman RJ, Hull CE, Safanda JF, et al. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994;51(4):298-308
   PubMed Web of Science ®Google Scholar
• Cohen IL, Nolin SL, Sudhalter V, et al. Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males. Am J Med Genet 1996;64(2):365-9
   PubMed Web of Science ®Google Scholar
• Zhou Y, Law HY, Boehm CD, et al. Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J Med Genet 2004;41(4):e45
   PubMed Web of Science ®Google Scholar
• Zhou Y, Lum JM, Yeo GH, et al. Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis. Clin Chem 2006;52(8):1492-500
   PubMedGoogle Scholar
• Lyon E, Laver T, Yu P, et al. A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn 2010;12(4):505-11
   PubMed Web of Science ®Google Scholar
• Hantash FM, Goos DG, Tsao D, et al. 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 2010;12(3):162-73
   PubMed Web of Science ®Google Scholar
• Chen L, Hadd A, Sah S, et al. 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 2010;12(5):589-600
   PubMed Web of Science ®Google Scholar
• Chen L, Hadd AG, Sah S, et al. High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med 2011;13(6):528-38
   PubMed Web of Science ®Google Scholar
• Clark SJ, Statham A, Stirzaker C, et al. DNA methylation: bisulphite modification and analysis. Nat Protoc 2006;1(5):2353-64
   PubMed Web of Science ®Google Scholar
• Warner JP, Barron LH, Goudie D, et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996;33(12):1022-6
   PubMed Web of Science ®Google Scholar
• Teo CR, Rajan-Babu IS, Law HY, et al. Methylation-specific triplet-primed PCR and melting curve analysis as a rapid screening tool for identifying actionable FMR1 genotypes. Clin Chem 2013;59(11):1668-70
   PubMedGoogle Scholar
• Amos Wilson J, Pratt VM, Phansalkar A, et al. Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn 2008;10(1):2-12
   PubMed Web of Science ®Google Scholar
• Lokanga RA, Entezam A, Kumari D, et al. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat 2013;34(1):157-66
   PubMed Web of Science ®Google Scholar
• Coffee B, Ikeda M, Budimirovic DB, et al. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet A 2008;146A(10):1358-67
   PubMed Web of Science ®Google Scholar
• Collins SC, Coffee B, Benke PJ, et al. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One 2010;5(3):e9476
   Google Scholar
• Loomis EW, Eid JS, Peluso P, et al. Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res 2013;23(1):121-8
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Weinhausel A, Haas OA. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 2001;108(6):450-8
   PubMedGoogle Scholar
• Das S, Kubota T, Song M, et al. Methylation analysis of the fragile X syndrome by PCR. Genet Test 1997;1(3):151-5
   PubMedGoogle Scholar
• Panagopoulos I, Lassen C, Kristoffersson U, Aman P. A methylation PCR approach for detection of fragile X syndrome. Hum Mutat 1999;14(1):71-9
   PubMedGoogle Scholar
• Dombrowski C, Levesque S, Morel ML, et al. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002;11(4):371-8
   PubMedGoogle Scholar
• Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994;77(6):853-61
   PubMedGoogle Scholar
• Berry-Kravis E, Potanos K, Weinberg D, et al. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 2005;57(1):144-7
   PubMedGoogle Scholar
• Pu D, Wu J, Liu J. Skewed X chromosome inactivation may be not associated with premature ovarian failure. Gynecol Endocrinol 2010;26(6):423-8
   PubMed Web of Science ®Google Scholar