Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloisa S. Moreira, Tim J. Wiltshire, Georgine Faulkner, Antje Nilforoushan, Mariz Vainzof, Oscar T. Suzuki, Giorgio Valle, Roger H Reeves, Mayana Zatz, M. Rita Passos-Bueno, Dieter E. Jenne

Research output: Contribution to journalArticle

Abstract

Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. There are eight genetically distinct forms of AR LGMD, LGMD 2A-H (refs 2-10), and the genetic lesions underlying these forms, except for LGMD 2G and 2H, have been identified. LGMD 2A and LGMD 2B are caused by mutations in the genes encoding calpain 3 (ref. 11) and dysferlin, respectively, and are usually associated with a mild phenotype. Mutations in the genes encoding γ- (ref. 14), α- (ref. 5), β- (refs 6,7) and δ (ref. 15)-sarcoglycans are responsible for LGMD 2C to 2F, respectively. Sarcoglycans, together with sarcospan, dystroglycans, syntrophins and dystrobrevin, constitute the dystrophin-glycoprotein complex (DGC). Patients with LGMD 2C-F predominantly have a severe clinical course. The LGMD 2G locus maps to a 3-cM interval in 17q11-12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9). To positionally clone the LGMD 2G gene, we constructed a physical map of the 17q11-12 region and refined its localization to an interval of 1.2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.

Original languageEnglish (US)
Pages (from-to)163-166
Number of pages4
JournalNature Genetics
Volume24
Issue number2
DOIs
StatePublished - Feb 2000

Fingerprint

Mutation
Sarcoglycans
Genes
Proteins
Dystroglycans
Dystrophin
Calpain
Glycoproteins
Clone Cells
Muscular Dystrophy, Limb-Girdle, Type 2G
Phenotype
Limb-girdle muscular dystrophy autosomal recessive

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., ... Jenne, D. E. (2000). Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nature Genetics, 24(2), 163-166. https://doi.org/10.1038/72822

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. / Moreira, Eloisa S.; Wiltshire, Tim J.; Faulkner, Georgine; Nilforoushan, Antje; Vainzof, Mariz; Suzuki, Oscar T.; Valle, Giorgio; Reeves, Roger H; Zatz, Mayana; Passos-Bueno, M. Rita; Jenne, Dieter E.

In: Nature Genetics, Vol. 24, No. 2, 02.2000, p. 163-166.

Research output: Contribution to journalArticle

Moreira, ES, Wiltshire, TJ, Faulkner, G, Nilforoushan, A, Vainzof, M, Suzuki, OT, Valle, G, Reeves, RH, Zatz, M, Passos-Bueno, MR & Jenne, DE 2000, 'Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin', Nature Genetics, vol. 24, no. 2, pp. 163-166. https://doi.org/10.1038/72822
Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nature Genetics. 2000 Feb;24(2):163-166. https://doi.org/10.1038/72822
Moreira, Eloisa S. ; Wiltshire, Tim J. ; Faulkner, Georgine ; Nilforoushan, Antje ; Vainzof, Mariz ; Suzuki, Oscar T. ; Valle, Giorgio ; Reeves, Roger H ; Zatz, Mayana ; Passos-Bueno, M. Rita ; Jenne, Dieter E. / Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. In: Nature Genetics. 2000 ; Vol. 24, No. 2. pp. 163-166.
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abstract = "Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. There are eight genetically distinct forms of AR LGMD, LGMD 2A-H (refs 2-10), and the genetic lesions underlying these forms, except for LGMD 2G and 2H, have been identified. LGMD 2A and LGMD 2B are caused by mutations in the genes encoding calpain 3 (ref. 11) and dysferlin, respectively, and are usually associated with a mild phenotype. Mutations in the genes encoding γ- (ref. 14), α- (ref. 5), β- (refs 6,7) and δ (ref. 15)-sarcoglycans are responsible for LGMD 2C to 2F, respectively. Sarcoglycans, together with sarcospan, dystroglycans, syntrophins and dystrobrevin, constitute the dystrophin-glycoprotein complex (DGC). Patients with LGMD 2C-F predominantly have a severe clinical course. The LGMD 2G locus maps to a 3-cM interval in 17q11-12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9). To positionally clone the LGMD 2G gene, we constructed a physical map of the 17q11-12 region and refined its localization to an interval of 1.2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.",
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