SMNT and NAIP mutations in Canadian families with Spinal Muscular Atrophy (SMA): Genotype/phenotype correlations with disease severity

American Journal of Medical Genetics

Volumn 72, Issue 1, 1997, Pages 51-58

  Simard, Louise R ^a   Rochette, Camille ^a   Semionov, Alexandre ^a   Morgan, Kenneth ^b   Vanasse, Michel ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Infantile spinal muscular atrophy; Neuronal apoptosis inhibitory protein gene; Survival motor neuron gene

Indexed keywords

COMPLEMENTARY DNA; MICROSATELLITE DNA;

ARTICLE; CHROMOSOME DELETION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TELOMERE;

CANADA; CHIMERA; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EXONS; FEMALE; GENE DELETION; GENOTYPE; HAPLOTYPES; HUMANS; INTRONS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; PEDIGREE; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 0030931351     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19971003)72:1<51::aid-ajmg11>3.0.co;2-t     Document Type: Article

References (29)

1. Burghes AHM, Ingraham SE, McLean M, Thompson TG, McPherson JD, Kote-Jarai Z, Carpten JD, DiDonato CJ, Ikeda J-E, Surh L, Wirth B, Sargent CA, Ferguson-Smith MA, Fuerst P, Moyzis RK, Grady DL, Zerres K, Korneluk R, MacKenzie A, Wasmuth JJ (1994): A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 21:394-402.
2. Bürglen 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.
3. Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J (1996): Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 29:171-174.
4. Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, Melki J (1995): A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11:335-337.
5. Chang J-G, Jong Y-J, Huang J-M, Wang W-S, Yang T-Y, Chang C-P, Chen Y-J, Lin S-P (1995): Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet 57:1503-1505.
6. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM (1995): Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805-808.
7. DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, Wirth B, Zerres K, Hurko O, Wasmuth JJ, Mendell JR, Burghes AHM, Simard LR (1994): Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218-1229.
8. DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT, Florence J, Burghes AHM (1996): Deletion and conversion in SMA patients: Is there a relationship to severity? Annals Neurol 41:230-237.
9. Dubowitz V (1978): "Muscle Disorders in Childhood." East Sussex: WB Saunders Co Ltd, pp 146-190.
10. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B (1995): Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213:342-348.
11. Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995): Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4:1927-1933.
12. Hahnen E, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B (1996): 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 59:1057-1065.
13. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J (1995): Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
14. Liston P, Roy N, Tamai K, Lefebvre C, Baird S, Cherton-Horvat G, Farahani R, McLean M, Ikeda J-E, MacKenzie A, Korneluk RG (1996): Suppression of apoptosis in mammalian cells by NAIP and a related family of TAP genes. Nature 379:349-353.
15. Mahadevan MS, Korneluk RG, Roy N, MacKenzie A (1995): SMA genes: Deleted and duplicated. Nat Genet 9:112-113.
16. McLean MD, Roy N, MacKenzie AE, Salih M, Burghes AHM, Simard L, Korneluk RG, Ikeda J-E, Surh L (1994): Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy. Hum Mol Genet 3:1951-1956.
17. Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou 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 264:1474-1477.
18. Munsat TM, Davies KE (1992): Meeting report: International SMA Consortium Meeting. Neuromusc Disord 2:423-428.
19. Parsons DW, McAndrew PE, Monani UR, Mendell JK, Burghes AHM, Prior TW (1996): An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet, 5:1727-1732.
20. Pearn J (1978): Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15:409-413.
21. Pearn J (1980): Classification of spinal muscular atrophies. Lancet 1:919-922.
22. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995): Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634.
23. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, Salih M, Aubry H, Tamai K, Guan X, Ioannou P, Crawford TO, de Jong PJ, Surh L, Ikeda J-E, Korneluk RG, MacKenzie A (1995): The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178.
24. Simard LR, Prescott G, Rochette C, Morgan K, Lemieux B, Mathieu J, Melançon SB, Vanasse M (1994): Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population. Hum Mol Genet 3:459-463.
25. Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AHM, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ (1995): A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 9:56-62.
26. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben J, Scheffer H, Buys CHCM (1995): PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986.
27. van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, Van Ommen G-JB, Brahe C, Buys CHCM (1996): Apparent gene conversion involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 58:834-838.
28. cBCD541 and SMA phenotype. Hum Mol Genet 5:257-263.
29. Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AHM (1995): Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 4:1273-1284.