Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

Genetics in Medicine

Volumn 4, Issue 1, 2002, Pages 20-26

  Mailman, Matthew D ^a   Heinz, John W ^a   Papp, Audrey C ^a   Snyder, Pamela J ^a   Sedra, Mary S ^a   Wirth, Brunhilde ^b   Burghes, Arthur H M ^a   Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Polymerase chain reaction; SMN; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

ALLELE; ARTICLE; CHIMERA; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENE NUMBER; GENETIC ANALYSIS; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY; FEMALE; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE DETECTION; HOMOZYGOTE; INFANT; MALE; MUTATION; NEWBORN;

ALLELES; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0036368287     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200201000-00004     Document Type: Article

References (54)

1. 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. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
2. Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Petrusewicz I, Ott J, Munsat TL, Gilliam TC. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-541.
3. Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, Dubowitz V, Munsat TL, Ott J, Davies KE. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-825.
4. Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, Fontan D, Ponsot G, Billette T, Angelini C, Barbosa C, Ferriere G, Lanzi G, Ottolini A, Babron MC, Cohen D, Hanauer A, Clerget-Darpoux F, Lathrop M, Munnich A, Frezal J. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768.
5. Daniels RJ, Thomas NH, MacKinnon RN, Lehner T, Ott J, Flint TJ, Dubowitz V, Ignatius J, Donner M, Zerres K, Rietschel M, Cookson WOC, Brzustowicz LM, Gilliam TC, Davies KE. Linkage analysis of spinal muscular atrophy. Cenomics 1992; 123:335-339.
6. Simard LR, Vanasse M, Rochette C, Morgan K, Lemieux B, Melancon SB, Labuda D. Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. Genomics 1992;14:188-190.
7. Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, Frischauf A-M, McPherson J, Wasmuth J, Davies KE. A contig of non-chimaeric YAC's containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 1993;2:1161-1167.
8. MacKenzie A, Roy N, Besner A, Mettler G, Jacob P, Korneluk R, Surh L. Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13.3 polymorphisms. Hum Genet 1993;90:501-504.
9. Soares VM, Brzustowicz LM, Kleyn PW, Knowles JA, Palmer DA, Asokan S, Penchaszadeh GK, Munsat TL, Gilliam TC. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics 1993;15:365-371.
10. Brahe C, Velona I, van der Steege G, Zappata S, van de Veen AY, Osinga J, Tops CMG, Fodde R, Khan PM, Buys CHCM, Neri G. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet 1994;93:494-501.
11. Burghes AHM, Ingraham SE, Kote-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, Carpten J, Hurko O, Florence J, Moxley RT, Cobben JM, Mendell JR. Linkage mapping of the spinal muscular atrophy gene. Hum Genet 1994;93:305-312.
12. Wirth B, El-Agwany A, Baasner A, Burghes AHM, Koch A, Dadze A, Piechaczek-Wappenschmidt B, Rudnik-Schoneborn S, Zerres K, Schonling J. Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites. Eur J Hum Genet 1995;3:56-60.
13. 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. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-1477.
14. Roberts DF, Chaves J, Court SDM. The genetic component in child mortality. Arch Dis Child 1970;45:33-38.
15. Pearn J. The gene frequency of acute Werdnig-Hoffman disease (SMA Type I). A total population survey in North-East England. J Med Genet 1973;10:260-265.
16. Pearn JH. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-413.
17. C gene copy number. Am J Hum Genet 1997;60:1411-1422.
18. Bussaglia E, Clermont O, Tizzano E, Lefebfvre S, Burglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, Melki J. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995; 11:335-337.
19. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-808.
20. Hahnen E, Forkert R, Merke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence for homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4:1927-1933.
21. Rodrigues NR, Campbell L, Owen N, Rodeck CH, Davies KE. Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet 1995;345:1049.
22. Devriendt K, Lammens M, Scholen E, Van Hole C, Dom R, Devlieger H, Cassiman J-J, Fryns J-P, Matthijs G. Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann Neurol 1996;40:731-738.
23. Hahnen E, Schonling J, Rudnik-Schoneborn S, Zerres K, Wirth B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 1996;59:1057-1065.
24. Matthijs G, Schollen E, Leguis E, Devriendt K, Goemans N, Kayserili H, Apak MY, Cassiman J-J. Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 1996;33:469-474.
25. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Den Dunnen JT, van Ommen GJ, Brahe C, Buys CHCM. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 1996;59:834-838.
26. CBCD541 and SMA phenotype. Hum Mol Genet 1996; 5:257-263.
27. Burghes AHM. When is a deletion not a deletion? When it is converted. Am J Hum Genet 1997;61:9-15.
28. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50.
29. DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley R, Florence J, Burghes AHM. Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 1997;41:230-237.
30. Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE. Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscul Disord 1997;7:198-201.
31. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, 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.
32. Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AHM, Prior TW. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of SMA phenotype by cenSMN copy number. Am J Hum Genet 1998;63:1712-1723.
33. Munsat TL, Davies KE. Meeting report: International SMA consortium meeting. Neuromuscul Disord 1992;2:423-428.
34. Zerres K, Schoneborn SR. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523.
35. Werdnig G. Zwei fruhinfantile hereditare Falle von progressiven Mukelatrophie unter dem Bilder der Dystrophie, aber auf neurotische Grundlage. Arch Psychiat 1891;22:437-481.
36. Hoffmann J. Ueber Familiare progressive spinale muskelatrophie. Arch Psych (Berlin) 1892;24:644-646.
37. Kugelberg E, Welander L. Familial neurogenic (spinal?) muscular atrophy simulating ordinary proximal dystrophy. Arch Psych Scand 1954;29:42-43.
38. Kugelberg E, Welander L. Heredo-familial juvenile muscular atrophy simulating muscular dystrophy. Arch Neurol Psychiatry 1956;75:500-509.
39. Russman BS, Buncher CR, White M, Samaha FJ, Iannaccone ST, and the DCN/SMA group. Function changes in spinal muscular atrophy II and III. Neurology 1996;47:973-976.
40. Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling 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.
41. 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 AHM, de la Chapelle A, Prior TW. Hybrids monosomal for human chromosome 5 reveal the presence of spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Hum Genet 2001;108:109-115.
42. Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Structure and organization of the human survival motor neuron (SMN) gene. Genomics 1996;32:479-482.
43. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999;96:6307-6311.
44. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AHM, McPherson JD. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-1183.
45. Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000;9:259-265.
46. Schrank B, Gotz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, Sendtner M. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 1997;94:9920-9925.
47. Hsieh-Li HM, Chang JG, Yong YJ, Wu MH, Wang NM, Tsai CH, Li H. A mouse model for spinal muscular atrophy. Nat Genet 2000;24:66-70.
48. Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossol W, Prior TW, Morris GE, Burghes AHM. 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 2000;9:333-339.
49. Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schoneborn S, Simard LR, Zerres K, Burghes AHM. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 1995;4:1273-1284.
50. Nishio H, Horikawa H, Yakura H, Sugie K, Nakamuro T, Koterazawa K, Ishikawa Y, Lee MJ, Wada H, Takeshima Y, Matsuo M, Sumino K. Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy. Acta Neurol Scand 1999;99:374-380.
51. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
52. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CHCM. PCR-based DNA. test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986.
53. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal museular atrophy (SMA). Hum Mutat 2000; 15:228-237.
54. Laken SJ, Petersen GME, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhamvar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17:79-83.