Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

American Journal of Medical Genetics

Volumn 91, Issue 4, 2000, Pages 305-312

  McNally, Elizabeth M ^a,e   Ly, Chantal ^a   Rosenmann, Hanna ^b   Rosenbaum, Stella Mitrani ^b   Jiang, Wei ^a   Anderson, Louise V B ^c   Soffer, Dov ^d   Argov, Zohar ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d HEBREW UNIVERSITY   (Israel)

^e MC 6088 ^*  (United States)

Author keywords

Dysferlin; Inflammatory myopathy; Limb girdle muscular dystrophy

Indexed keywords

DYSFERLIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 2P; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENETIC LINKAGE; HUMAN; IMMUNOCYTOCHEMISTRY; INFLAMMATION; LIMB GIRDLE MUSCULAR DYSTROPHY; PRIORITY JOURNAL; RNA SPLICING;

ALTERNATIVE SPLICING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFLAMMATION; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 0034709195     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000410)91:4<305::AID-AJMG12>3.0.CO;2-S     Document Type: Article

References (25)

1. Achanzar WE, Ward S. 1997. A nematode gene required for sperm vesicle fusion. J Cell Sci 110:1073-1081.
2. Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM. 1999. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 8:855-861.
3. Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckman J, Keers S, Bashir R, Bushby KM, Rosenmann H. 2000. Muscular dystrophy due to dysferlin deficiency in Libyan Jews: clinical and genetic features. Brain (in press).
4. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira EDS, Zatz M, Beckmann JS, Bushby K. 1998. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20: 37-42.
5. Bashir R, Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, Le Paslier D, Meisler M, Bushby K. 1996. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33:46-52.
6. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. 1994. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 3:455-457.
7. Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP, Griggs RC, Munsat TL, Ben Hamida M, Arahata K, Brown RH. 1995. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 5:768-772.
8. Bernard CC, Carnegie PR, 1975. Experimental autoimmune encephalomyelitis in mice: immunologic response to mouse spinal cord and myelin basic proteins. J Immunol 114:1537-1540.
9. Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Hoger H, Jung M, Karbasiyan M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KM, Reis A. 1999. Dysferlin deletion in SJL mice (SJL-Dvsf) defines a natural model for limb-girdle muscular dystrophy 2B. Nat Genet 23: 141-142.
10. Bonnemann CG, McNally EM, Kunkel LM. 1996. Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr 8:569-582.
11. Bushby KM. 1995. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies. Neuromuscul Disord 5:71-74.
12. Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Poleshchuk VV, Markova ED, Tsuji S. 1997. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 42:345-348.
13. Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S. 1996. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119:1895-1909.
14. Lathrop BM, Lalouel JM, Julier C, Ott J. 1984. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446.
15. Lim LE, Campbell KP. 1998. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 11:443-452.
16. Liu J, Aoki M, Ilia I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. 1998. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy. Nat Genet 20:31-36.
17. LINKAGE 5.1 [Computer software]. 1997. ftp://linkage.rockefeller.edu/ software/linkage.
18. Mahjneh I, Bushby K, Pizzi A, Bashir R, Marconi G. 1996a. Limb-girdle muscular dystrophy: a follow-up study of 79 patients. Acta Neurol Scand 94:177-189.
19. Mahjneh I, Passos-Bueno MR, Zatz M, Vainzof M, Marconi G. Nashef L, Bashir R, Bushby K. 1996b. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromuscul Disord 6:483-490.
20. Messina DN, Speer MC, Pericak-Vance MA, McNally EM. 1997. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 61:909-917.
21. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
22. Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M. 1996. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 33:97-102.
23. Rizo J, Sudhof TC. 1998. C2-domains, structure, and function of a universal Ca2+-binding domain. J Biol Chem 273:15879-15882.
24. Rosenberg NL, Ringel SP, Kotzin BL. 1987. Experimental autoimmune myositis in SJL/J mice. Clin Exp Immunol 68:117-129.
25. Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Bushby CR, Wrogemann K. 1999. Identical mutation in patients with limb-girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 8:871-877.