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Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

Nature Genetics volume 14, pages 195–198 (1996)Cite this article

Abstract

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal muscular weakness of the pelvic and shoulder girdles and a variable progression with symptoms, ranging from very severe to mild1,2. One autosomal dominant (LGMD1 A, at chromosome 5q22.3–31.3) (ref. 3) and five autosomal recessive (AR) loci responsible for this phenotype have been identified: LGMD2A at 15q (ref. 4); LGMD2B at 2p (ref. 5), LGMD2C at 13q (ref. 6), LGMD2D at 17q (ref. 7) and LGMD2E at 4q (refs 8, 9). In the muscle membrane, dystrophin associates with several proteins and glycoproteins organized in two main subcomplexes: the dystroglycan (DG) and sarcoglycan (SG) complexes9, 10–14. The genes for LGMD2C, LGMD2D and LGMD2E code for proteins of the SG complex7, 8, 15–17. We recently mapped a sixth AR form of LGMD, LGMD2F, to chromosome 5q33–3418 in two Brazilian families. In the same chromosomal interval we also mapped the δSG gene, encoding a novel 35-kD component of the sarcoglycan (SG) complex19. We now show that a homozygous mutation in the δSG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F.

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Author notes

  1. Mayana Zatz: Correspondence should be addressed to M.Z.

Authors and Affiliations

  1. Istituto di Patologia Generate e Oncologia, Facoltá di Medicina, Seconda Universitá degli studi di Napoli, Larghetto S. Aniello a Caponapoli, 2 80138, Napoli, Italy

    Vincenzo Nigro, Giulio Piluso & Angela Belsito

  2. Dipartimento di Internistica Clinica e Sperimentale, Seconda Universit´ di Napoli, Napoli, Italy

    Luisa Politano

  3. Telethon Institute of Genetics and Medicine (TIGEM), Milano, Italy

    Annibale A. Puca

  4. Departamento de Biologia, IBUSP, Universidade de Säo Paulo, Rua do Matão, 277, CEP 05508-900, São Paulo, Brazil

    Eloisa de Sá Moreira, Mariz Vainzof, Maria Rita Passos-Bueno & Mayana Zatz

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  7. Annibale A. Puca
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  8. Maria Rita Passos-Bueno
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Nigro, V., Moreira, E., Piluso, G. et al. Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene. Nat Genet 14, 195–198 (1996). https://doi.org/10.1038/ng1096-195

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