Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders

References

• 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;15:575–586.
   PubMed Web of Science ®Google Scholar
• Wheeler A, Raspa M, Hagerman R, et al. Implications of the FMR1 premutation for children, adolescents, adults, and their families. Pediatrics. 2017;139:S172–S182.
   PubMed Web of Science ®Google Scholar
• Gallagher A, Hallahan B. Fragile X-associated disorders: a clinical overview. J Neurol. 2012;259:401–413.
   PubMed Web of Science ®Google Scholar
• Hantash F, Goos DM, Crossley B, et al. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med. 2011;13:39–45.
   PubMed Web of Science ®Google Scholar
• Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med. 2005;7:584–587.
   PubMed Web of Science ®Google Scholar
• Hagerman RJ, Hagerman PJ. Fragile X syndrome: diagnosis, treatment, and research. 3rd ed. Baltimore: The Johns Hopkins University Press; 2002. p. 3–109.
   Google Scholar
• Saluto A, Brussino A, Tassone F, et al. An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn. 2005;7:605–612. [PubMed: 16258159].
   PubMed 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;11:306–310. [PubMed: 19525339].
   PubMed Web of Science ®Google Scholar
• Biacsi R, Kumari D, Usdin K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 2008;4:e1000017. PMID: 18369442.
   PubMed Web of Science ®Google Scholar
• Tassone F, Pan R, Amiri K, et al. 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. 2008;10:43–49. PMID: 18165273.
   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;56:399–408.
   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 Sept;12(5):589–600. PMID: 20616364.
   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. GenetMed. 2011;13:528–538.
   Web of Science ®Google Scholar
• Hadd AG, Filipovic-Sadic S, Zhou L, et al. A PCR method for X-chromosome activation analysis simplifies phenotype association studies in fragile X premutation carrier women. Clin Epigenetics. 2016;8:130. PMID: 27980694.
   PubMedGoogle Scholar
• Yrigollen CM, Durbin-Johnson B, Tassone F. The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One. 2011;6:e21728.
   PubMed Web of Science ®Google Scholar
• Ludwig AL, Raske C, Tassone F, et al. Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res. 2009;37:6896–6904.
   PubMed Web of Science ®Google Scholar
• Yrigollen CM, Durbin-Johnson B, Gane L, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012;14:729–736.
   PubMed Web of Science ®Google Scholar
• Nolin SL, Sah S, Glicksman A, et al. Fragile X AGG analysis predicts instability in 45-69 repeat alleles. Am J Med Genet. 2013;161:771–778.
   Web of Science ®Google Scholar
• Yrigollen CM, Sweha S, Durbin-Johnson B, et al. Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res. 2014;3:153–161.
   PubMedGoogle Scholar
• Weiss K, Orr-Urtreger A, Kaplan Ber I, et al. Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women. Genet Med. 2014;16:940–944.
   PubMed Web of Science ®Google Scholar
• Villate O, Ibarluzea N, Maortua H, et al. Effect of AGG Interruptions on FMR1 maternal transmissions. Front Mol Biosci. 2020;7:135.
   PubMed Web of Science ®Google Scholar
• Nolin SL, Glicksman A, Ersalesi N, et al. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genet Med. 2015;17:358–364.
   PubMed Web of Science ®Google Scholar
• Manor E, Gonen R, Sarussi B, et al. The role of AGG interruptions in the FMR1 gene stability: a survey in ethnic groups with low and high rate of consanguinity. Mol Genet Genomic Med. 2019;7:e00946.
   PubMed Web of Science ®Google Scholar
• Budimirovic DB, Schlageter A, Filipovic-Sadic S, et al. A genotype-phenotype study of high-resolution FMR1 nucleic acid and protein analyses in fragile X patients with neurobehavioral assessments. Brain Sci. 2020 Sept 30;10(10):E694. PMID: 33008014.
   PubMed Web of Science ®Google Scholar
• Rey HL, Ruskin A, Fahey M, et al. Analytical and clinical validation of a PCR/CE assay system for the diagnosis of fragile X syndrome and carrier screening. American College of Medical Genetics Conference Proceedings; 2020.
   Google Scholar
• Hawkins M, Boyle J, Wright KE, et al. Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Eur J Hum Genet. 2011;19:10–17.
   PubMed Web of Science ®Google Scholar
• Latham G, Coppinger J, Hadd A, et al. The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective. Front Genet. 2014;5:1–6.
   PubMed Web of Science ®Google Scholar
• Friedman-Gohas M, Kirshenbaum M, Michaeli A, et al. Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers? J Assist Reprod Genet. 2020;37:849–854.
   PubMed Web of Science ®Google Scholar
• Hall DA, Nag S, Ouyang B, et al. Fragile X gray zone alleles are associated with signs of parkinsonism and earlier death. Mov Disord. 2020 May 28;35:1448–1456. PMID: 32463542.
   Web of Science ®Google Scholar
• Rajan-Babu IS, Lian M, Tran AH, et al. Defining the performance parameters of a rapid screening tool for FMR1 CGG-repeat expansions based on direct triplet-primed PCR and melt curve analysis. J Mol Diagn. 2016;18:719–730.
   PubMed Web of Science ®Google Scholar
• Hayward BE, Kumari D, Usdin K. Recent advances in assays for the fragile X-related disorders. Hum Genet. 2017 Oct;136(10):1313–1327.
   PubMed Web of Science ®Google Scholar