LGMD 2E in Tunisia is caused by a homozygous missense mutation in β-sarcoglycan exon 3

Neuromuscular Disorders

Volumn 8, Issue 3-4, 1998, Pages 193-197

  Bonnemann C G ^a,b   Wong, J ^a   Hamida, Ch Ben ^c   Hamida, M Ben ^c   Hentati, F ^c   Kunkel, L M ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

sarcoglycan; LGMD 2E; Limb girdle muscular dystrophy; Sarcoglycanopathy

Indexed keywords

ARGININE; BETA SARCOGLYCAN; CYSTEINE; PROLINE; SARCOGLYCAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONFERENCE PAPER; DISULFIDE BOND; EXON; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; TUNISIA;

ADOLESCENT; ADULT; CHROMOSOME MAPPING; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; EXONS; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; TUNISIA;

EID: 0032077091     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00014-5     Document Type: Conference Paper

References (28)

1. Bushby K.M.D. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromusc Disord. 5:1995;71-74.
2. Bönnemann C.G., McNally E.M., Kunkel L.M. Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 8:1996;569-582.
3. McNally E.M., Passos-Bueno R., Bönnemann C.G.et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet. 59:1996;1040-1047.
4. Eymard B., Romero N.B., Leturcq F.et al. Primary adhalinopathy (alpha-sarcoglycanopathy):clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology. 48:1997;1227-1234.
5. Ginjaar HB, vd Kooi A, Ceelie H, et al. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophies. Neuromusc Disord 1997;7:440, GP1B.6.
6. Roberds S.L., Leturcq F., Allamand V.et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 78:1994;625-633.
7. Bönnemann C.G., Modi R., Noguchi S.et al. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 11:1995;266-273.
8. Lim L.E., Duclos F., Broux O.et al. β-Sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet. 11:1995;257-265.
9. Noguchi S., McNally E.M., Ben Othmane K.et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822.
10. Nigro V., de Sa Moriera E., Piluso G.et al. The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene. Nat Genet. 14:1996;195-198.
11. Ben Hamida M., Ben Hamida C., Zouari M., Belal S., Hentati F. Limb-girdle muscular dystrophy 2C: clinical aspects. Neuromusc Disord. 6:1996;493-494.
12. Ben Hamida M., Fardeau M., Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve. 6:1983;469-480.
13. Ben Othmane K., Ben Hamida M., Pericak-Vance M.A.et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 2:1992;315-317.
14. Azibi K., Bachner L., Beckmann J.S.et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet. 2:1993;1423-1428.
15. el Kerch F., Sefiani A., Azibi K.et al. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa. J Med Genet. 31:1994;342-343.
16. Ben Hamida C, Belal S, Hchaichi O, Hentati F, Ben Hamida M. Linkage analysis of Tunisian Duchenne-like muscular dystrophies and other limb-girdle muscular dystrophies. 30/31 ENMC International workshop on LGMD/SCARMD. Naarden, The Netherlands, 1995.
17. Ben Hamida M, Ben Hamida C, MDA LGMD Workshop, Minneapolis, MA, 1995.
18. Azibi K., Chaouch M., Reghis A.et al. Genetic and allelic heterogeneity of LGMD in North Africa. Neuromusc Disord. 7:1997;441.
19. Ben Hamida C, Zouari M, Amouri R, et al. Phenotype-genotype correlation in Tunisian patients with not linked to chromosome 13 autosomal recessive muscular dystrophy. MDA LGMD Genetics Workshop, Tunis, Tunisia, 1996.
20. Bönnemann C.G., Passos-Bueno R., McNally E.M.et al. Genomic screening for β-sarcoglycan mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 5:1996;1953-1961.
21. Little S. ARMS analysis of point mutations, in: Dracopoli NC, Haines DL, Korf BR, et al., editors. Current Protocols in Human Genetics, New York: Wiley, 1995;Suppl. 3:9.8.1-9.8.12.
22. Ferrie R.M., Schwarz M.J., Robertson N.H.et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 51:1992;251-262.
23. Hentati F, Ben Hamida C, Belal S, et al. Immunohistochemical analysis of dystrophin-associated glycoproteins in Duchenne-like autosomal recessive muscular dystrophies in Tunisia. Vth European Congress of Neuropathology, Paris, France, 1996.
24. McNally E.M., Duggan D.J., Gorospe J.R.et al. Mutations in the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 5:1996;1841-1847.
25. Sewry C.A., Taylor J., Anderson L.V.et al. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord. 6:1996;467-474.
26. Vainzof M., Passos-Bueno M.R., Moreira E.S.et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet. 5:1996;1963-1969.
27. Duggan D.J., Gorospe J.R., Fanin M., Hoffman E.P., Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 336:1997;618-624.
28. dos Santos MR, Vieira EM, Ribeiro MG, Santos MM, Gomes R, Guimaräes A. Known and novel sarcoglycan gene mutations in Portoguese patients. Neuromusc Disord 1997;7:439, GP1B.4.