Establishment of a molecular diagnostic system for spinal muscular atrophy: Experience from a clinical laboratory in China

Journal of Molecular Diagnostics

Volumn 13, Issue 1, 2011, Pages 41-47

  Zeng, Jian ^a   Lin, Yanhong ^a   Yan, Aizhen ^a   Ke, Longfeng ^a   Zhu, Zhongyong ^a   Lan, Fenghua ^a  

^a XIAMEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINA; CLINICAL LABORATORY; DIAGNOSTIC TEST ACCURACY STUDY; GENE; GENE MUTATION; HUMAN; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SMN1 GENE; SPINAL MUSCULAR ATROPHY;

EID: 78651100369     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2010.11.009     Document Type: Article

References (35)

1. Ogino S, Leonard DG, Rennert H, Wilson RB: Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn 2002, 4:53-58 (Pubitemid 44698436)
2. Zhu S, Xiong F, Chen YJ, Yan TZ, Zeng J, Li L, Zhang YN, Chen WQ, Bao XH, Zhang C, Xu XM: Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. Eur J Hum Genet 2010. [Epub ahead of press]
3. Munsat TL, Davies KE: International SMA consortium meeting (26-28 June 1992. Bonn, Germany). Neuromuscul Disord 1992, 2:423-428
4. Panigrahi I, Kesari A, Phadke SR, Mittal B: Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India 2002, 50:117-122 (Pubitemid 34873805)
5. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165
6. Cartegni L, Krainer AR: Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002, 30:377-384
7. Cartegni L, Hastings ML, Calarco JA, de-Stanchina E, Krainer AR: Determinants of exon 7 splicing in the spinal muscular atrophy genes: SMN1 and SMN2. Am J Hum Genet 2006, 78:63-77
8. Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont JP, Melki J: Refined characterization of the expression and stability of the SMN gene products. Am J Pathol 2007, 171:1269-1280
9. Otter S, Grimmler M, Neuenkirchen N, Chari A, Sickmann A, Fischer U: A comprehensive interaction map of the human survival of motor neuron (SMN) complex. J Biol Chem 2007, 282:5825-5833 (Pubitemid 47093793)
10. Pillai RS, Grimmler M, Meister G, Will CL, Lührmann R, Fischer U, Schümperli D: Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component: Lsm11, in histone RNA processing. Genes Dev 2003, 17:2321-2333
11. Setola V, Terao M, Locatelli D, Bassanini S, Gerattini E, Battaglia G: Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci U S A 2007, 104:1959-1964
12. Briese M, Esmaeili B, Fraboulet S, Burt EC, Christodoulou S, Towers PR, Davies KE, Sattelle DB: Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet 2009, 18:97-104
13. Ebert AD, Yu J, Rose FF Jr, Mattis VB, Lorson CL, Thomson JA, Svendsen CN: Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009, 457:277-280
14. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CH: PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995, 345:985-986
15. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57
16. Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M: Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 2006, 16:830-838
17. Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B: Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 2006, 7:269-276
18. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K: 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, 64:1340-1356
19. Zeng J, Lan FH, Deng XJ, Ke LF, Tu XD, Huang LH, Zheng DZ, Zhu ZY: Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese. Clin Chim Acta 2008, 398:78-81
20. Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW: Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 1998, 63:1712-1723
21. Nagel RL, Steinberg MH: Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia. Pediatr Pathol Mol Med 2001, 20:123-136
22. Harding AE: Clinical features and classification of inherited ataxias. Adv Neurol 1993, 61:1-14
23. Contino G, Novelli G: Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives. Expert Opin Pharmacother 2006, 7:1849-1856 (Pubitemid 44489360)
24. Xu R, Ogino S, Lip V, Fang H, Wu BL: Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genet Test 2003, 7:277-281
25. Moutou C, Gardes N, Rongières C, Ohl J, Bettahar-Lebugle K, Witterner C, Gerlinger P, Viville S: Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat Diagn 2001, 21:498-503
26. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF: Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acids Res 1989, 17:2503-2516
27. Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L: Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscul Disord 2007, 17:476-481
28. Velasco E, Valero C, Valero A, Moreno F, Hernandez-Chico C: Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 1996, 5:257-263
29. Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C: Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. Hum Mol Genet 1999, 8:2525-2532
30. Scheffer H, Cobben JM, Mensink RGJ, 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
31. Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, Chapelle A, Prior TW: Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Hum Genet 2001, 108:109-115
32. Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Muller-Myhsok B, Schönling J, Zerres K: De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 1997, 61:1102-1111 (Pubitemid 27492318)
33. 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, 15:228-237
34. Tsai CH, Jong YJ, Hu CJ, Chen CM, Shih MC, Chang CP, Chang JG: Molecular analysis of SMN: NAIP and P44 genes of SMA patients and their families. J Neurol Sci 2001, 190:35-40
35. Wilkinson MF: A new function for nonsense-mediated mRNA-decay factors. Trends Genet 2005, 21:143-148