Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Neuromuscular Disorders

Volumn 16, Issue 12, 2006, Pages 830-838

  Arkblad, Eva L ^a   Darin, Niklas ^b   Berg, Kerstin ^a   Kimber, Eva ^c   Brandberg, Göran ^d   Lindberg, Christopher ^a   Holmberg, Eva ^a   Tulinius, Mar ^b   Nordling, Margareta ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^d FALUN HOSPITAL   (Sweden)

Author keywords

Diagnostics; Gene dosage; MLPA; SMA

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; HOMOZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR PROBE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ADULT; CHILD; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; DNA PROBES; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PREDICTIVE VALUE OF TESTS; RNA-BINDING PROTEINS;

EID: 33845232467     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.08.011     Document Type: Article

References (19)

1. Ogino S., and Wilson R.B. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn 4 1 (2004) 15-29
2. Ogino S., Wilson R.B., and Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 12 (2004) 1015-1023
3. Cusin V., Clermont O., Chantereau D., and Elion J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 40 (2003) e39
4. Gubitz A.K., Feng W., and Dreyfuss G. The SMN complex. Exp Cell Res 296 1 (2004) 51-56
5. Scott O.M., Hyde S.A., Goddard C., and Dubowitz V. Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve 5 4 (1982) 291-301
6. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30 12 (2002) e57
7. Rochette C.F., Surh L.C., Ray P.N., et al. Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics 1 2 (1997) 141-147
8. Tsai C.H., Jong Y.J., Hu C.J., et al. Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. J Neurol Sci 190 1-2 (2001) 35-40
9. DiDonato C.J., Morgan K., Carpten J.D., et al. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55 6 (1994) 1218-1229
10. Melki J., Lefebvre S., Burglen L., et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264 5164 (1994) 1474-1477
11. Wirth B., Hahnen E., Morgan K., et al. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 4 8 (1995) 1273-1284
12. Clermont O., Burlet P., Benit P., et al. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat 24 5 (2004) 417-427
13. Sun Y., Grimmler M., Schwarzer V., Schoenen F., Fischer U., and Wirth B. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Hum Mutat 25 1 (2005) 64-71
14. Anhuf D., Eggermann T., Rudnik-Schoneborn S., and Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 22 1 (2003) 74-78
15. Scheffer H., Cobben J.M., Matthijs G., and Wirth B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 9 7 (2001) 484-491
16. Tomaszewicz K., Kang P., and Wu B.L. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Beijing Da Xue Xue Bao 37 1 (2005) 55-57
17. Monani U.R., Sendtner M., Coovert D.D., et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9 3 (2000) 333-339
18. Prior T.W., Swoboda K.J., Scott H.D., and Hejmanowski A.Q. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A 130 3 (2004) 307-310
19. Scheffer H., Cobben J.M., Mensink R.G., Stulp R.P., van der Steege G., and Buys C.H. 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 8 2 (2000) 79-86