Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system

References

• Zerres K, Wirth B, Rudnik-Schoneborn S. Spinal muscular atrophy – clinical and genetic correlations. Neuromuscul Disord. 1997; 7: 202–7
   PubMed Web of Science ®Google Scholar
• Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995; 52: 518–23
   PubMed Web of Science ®Google Scholar
• Cusin V, Clermont O, Gerard B, Chantereau D, Elion J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003; 40: e39
   PubMed Web of Science ®Google Scholar
• Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002; 70: 358–68
   PubMed Web of Science ®Google Scholar
• Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002; 111: 477–500
   PubMed Web of Science ®Google Scholar
• Scheffer H, Cobben JM, Matthijs G, Wirth B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001; 9: 484–91
   PubMed Web of Science ®Google Scholar
• Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000; 15: 228–37
   PubMed Web of Science ®Google Scholar
• Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80: 155–65
   PubMed Web of Science ®Google Scholar
• Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999; 64: 1340–56
   PubMed Web of Science ®Google Scholar
• van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 1995; 345: 985–6
   PubMed Web of Science ®Google Scholar
• Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat. 2003; 22: 74–8
   PubMed Web of Science ®Google Scholar
• Chen KL, Wang YL, Rennert H, Joshi I, Mills JK, Leonard DG, et al. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. Am J Med Genet. 1999; 85: 463–9
   PubMed Web of Science ®Google Scholar
• McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet. 1997; 60: 1411–22
   PubMed Web of Science ®Google Scholar
• Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH. SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur J Hum Genet. 2000; 8: 79–86
   PubMed Web of Science ®Google Scholar
• Hung CC, Lee CN, Chen CP, Jong YJ, Chen CA, Cheng WF. Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene. Anal Chem. 2005; 77: 6960–8
   PubMed Web of Science ®Google Scholar
• Kao HY, Su YN, Liao HK, Liu MS, Chen YJ. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. Clin Chem. 2006; 52: 361–9
   PubMed Web of Science ®Google Scholar
• Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat. 2005; 25: 460–7
   PubMed Web of Science ®Google Scholar
• Ogino S, Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004; 4: 15–29
   PubMed Web of Science ®Google Scholar
• Mazzei R, Conforti FL, Muglia M, Sprovieri T, Patitucci A, Magariello A, et al. A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography. J Child Neurol. 2003; 18: 269–71
   PubMed Web of Science ®Google Scholar
• Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. Am J Med Genet. 2002; 113: 225–6
   PubMed Web of Science ®Google Scholar