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Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

• Short Report
• Published: 19 October 1998

European Journal of Human Genetics volume 6, pages 396–399 (1998)Cite this article

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Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscular dystrophy with primary γ-sarcoglycan deficiency, generally associated with a severe clinical course. γ-sarcoglycan, a 35 kDa dystrophin-associated protein, is encoded by a single gene on chromosome 13q12. Six different mutations have been described in that gene, and it has been proved they are the origin of the disease. One of these mutations (C283Y), a G → A transition in codon 283, was recently and exclusively identified in Gypsy patients from different European countries. We report the study of 11 LGMD2C unrelated Gypsy families (nine Spanish and two Portugese). The muscle biopsies of these patients showed a drastically decreased immunostaining with α and γ-sarcoglycan antibodies. All the patients were homozygous for C283Y missense mutation, and all affected chromosomes (patients and heterozygous relatives) carried the allele 5 (112 bp) of the intragenic microsatellite D13S232. Unexpectedly, this allele is most frequent in the Caucasian population but not in the normal Gypsy population. The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). The elevated number of families ascertained let us assume that LGMD2C is prevalent in the Gypsy population, and that all the families have inherited a founding mutation.

1. Unitat de Genètica Molecular, Hospital Sant Pau, Barcelona, Spain

   Adriana Lasa, Carles de Diego, Maria José Rodríguez, Montserrat Baiget & Pia Gallano

2. NSERM 129, Institut Cochin de Génétique Moléculaire, Paris, France

   Federica Piccolo, Marc Jeanpierre & Jean Claude Kaplan

3. Servei de Neurologia, Hospital Sant Joan de Deu, Barcelona, Spain

   Jaume Colomer

4. Association Française centre les Myopathies, Evry, Paris, France

   Jon Andoni Urtizberea

1. Adriana Lasa
2. Federica Piccolo
3. Carles de Diego
4. Marc Jeanpierre
5. Jaume Colomer
6. Maria José Rodríguez
7. Jon Andoni Urtizberea
8. Montserrat Baiget
9. Jean Claude Kaplan
10. Pia Gallano

Correspondence to Pia Gallano.

Lasa, A., Piccolo, F., de Diego, C. et al. Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene. Eur J Hum Genet 6, 396–399 (1998). https://doi.org/10.1038/sj.ejhg.5200197

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• Received: 23 October 1997

• Revised: 12 January 1998

• Accepted: 16 January 1998

• Published: 19 October 1998

• Issue Date: 01 July 1998

• DOI: https://doi.org/10.1038/sj.ejhg.5200197

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