Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene

Human Mutation

Volumn 20, Issue 6, 2002, Pages 452-459

  Cuscó, Ivon ^a   Barceló, María J ^a   Baiget, Montserrat ^a   Tizzano, Eduardo E ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Mutation detection; PCR; Quantitative analysis; SMA; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

GENOMIC DNA;

ARTICLE; DNA SEQUENCE; GENE; GENETIC ANALYSIS; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SMN1 GENE; SPINAL MUSCULAR ATROPHY;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; RNA-BINDING PROTEINS;

EID: 0036449356     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10144     Document Type: Article

References (23)

1. Búrglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. 1996. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32:479-482.
2. Chen KL, Wang L, Rennert H, Joshi I, Mills J, Leonard D, Wilson R. 1999. Duplications and de novo deletions of the SMNt gene demonstrate by fluorescence-based carrier testing for spinal muscular atrophy. Am J Med Genet 85:463-469.
3. Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE. 1998. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Genomics 15:121-127.
4. Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernandez-Chico C, Bussaglia E, Baiget M, Tizzano E. 2001. Characterization of SMN hybrid genes in Spanish SMA patients: De novo, homozygous and compound heterozygous cases. Hum Genet 108:222-229.
5. Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E. 2002. Prenatal diagnosis for risk of spinal muscular atrophy. Br J Obstet Gynaecol 109(11).
6. Dracopoli N, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR. 1994. Current Protocols in Human Genetics. New York: Wiley and Sons, Inc. A.3C1-A.3C2.
7. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 2002. 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 70:358-368.
8. Gérard B, Ginet N, Matthijs G, Baumann C, Da Silva F, Gérard-Blanulet M, Mayer M, Grandchamp B, Elion J. 2000. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat 16:253-263.
9. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, Melki J. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
10. McAndrew PE, Parson DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AL. 1997. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60:1411-1422.
11. Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, Cohen D, Weissenbach J, Munnich A. 1994. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 3:1474-1477.
12. Miller SA, Dykes DD, Polesky H. 1989. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
13. Munsat TM, Davies KE. 1992. Meeting report: International SMA consortium meeting. Neuromuscul Disord 2:423-428.
14. Pearn J. 1980. Classification of spinal muscular atrophies. Lancet I:919-922.
15. Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, Vial E, Munnich A, Frébourg T 2001. Detection of heterozygous SMN 1 deletions in SMA families using a simple fluorescent multiplex PCR method. J Med Genet 38:240-243.
16. Scheffer H, Cobben JM, Mensink RGJ, Stulp RP, Van der Steege G, Buys C. 2000. 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 of Hum Genet 8:79-86.
17. Semprini S, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli G. 2001. A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. Genet Test 5:33-37.
18. Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG. 1998. Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur J Hum Genet 6:467-474.
19. Tizzano EF, Cuscó I, Barceló MJ, Parra J, Baiget M. 2002. Should gamete donors be tested for spinal muscular atrophy? Fertil Steril 77:409-411.
20. Van der Steege G, Grootscholten PM, Van der Ulies P, Draaijiers TG, Osinga J, Cobben JM, Scheffer H, Buys CH, 1995. PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy [letter]. Lancet 345:985-986.
21. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K. 1999. 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 6:1340-1356.
22. Wirth B. 2000. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy.. Hum Mutat 15:228-237.
23. Zerres K, Rudnik-Schoneborn. 1995. Natural history in proximal spinal muscular atrophy (SMA)-clinical analysis of 445 patients and suggestions for modification of existing classifications. Arch Neurol 52:518-523.