Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Francesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, Monica Sciacco, Sandra Gandossini, Alessandra Govoni, Laura Napoli, Patrizia Ciscato, Francesco Fortunato, Erika Brighina, Sara Bonato, Andreina Bordoni, Valeria Lucchini, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticle

Abstract

Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central Europe, where the c.191dupA mutation causes the majority of cases. We evaluated data from 228 Italian LGMD patients to determine the prevalence of LGMD2L and the c.191dupA mutation, and to describe the clinical, muscle biopsy, and magnetic resonance imaging findings in these patients. Forty-three patients who lacked molecular diagnosis were studied for ANO5 mutations, and four novel mutations were found in three probands. Only one proband carried the c.191dupA mutation, which was compound heterozygous with c.2516T>G. Two probands were homozygous for the c.1627dupA and c.397A>T mutations, respectively, while a fourth proband had a compound heterozygous status (c.220C>T and c.1609T>C). Therefore occurrence and molecular epidemiology of LGMD2L in this Italian cohort differed from those observed in other European countries. ANO5 mutations accounted for ∼2% of our sample. Affected patients exhibited benign progression with variable onset and an absence of cardiac and respiratory impairment; muscle biopsy generally showed mild signs, except when performed on the quadriceps muscles; MRI showed predominant involvement of the posterior thigh. Overall these common clinical, morphological and imaging findings could be useful in differential diagnosis.

Original languageEnglish
Pages (from-to)934-943
Number of pages10
JournalNeuromuscular Disorders
Volume22
Issue number11
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Anoctamin 5
  • Chloride channel
  • Limb girdle muscular dystrophy 2L
  • Membrane repair
  • Quadriceps myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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