ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Anna Sarkozy, Debbie Hicks, Judith Hudson, Steve H. Laval, Rita Barresi, David Hilton-Jones, Marcus Deschauer, Elizabeth Harris, Laura Rufibach, Esther Hwang, Rumaisa Bashir, Maggie C. Walter, Sabine Krause, Peter van den Bergh, Isabel Illa, Isabelle Pénisson-Besnier, Liesbeth De Waele, Doug Turnbull, Michela Guglieri, Bertold SchrankBenedikt Schoser, Jürgen Seeger, Herbert Schreiber, Dieter Gläser, Michelle Eagle, Geraldine Bailey, Richard Walters, Cheryl Longman, Fiona Norwood, John Winer, Francesco Muntoni, Michael Hanna, Mark Roberts, Laurence A. Bindoff, Charlotte Brierley, Robert G. Cooper, David A. Cottrell, Nick P. Davies, Andrew Gibson, Gráinne S. Gorman, Simon Hammans, Andrew P. Jackson, Aijaz Khan, Russell Lane, John Mcconville, Meriel Mcentagart, Ali Al-Memar, John Nixon, Jay Panicker, Matt Parton, Richard Petty, Christopher J. Price, Wojtek Rakowicz, Partha Ray, Anthony H. Schapira, Robert Swingler, Chris Turner, Kathryn R. Wagner, Paul Maddison, Pamela J. Shaw, Volker Straub, Kate Bushby, Hanns Lochmüller

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.

Original languageEnglish
Pages (from-to)1111-1118
Number of pages8
JournalHuman Mutation
Issue number8
StatePublished - Aug 2013
Externally publishedYes


  • ANO5
  • Gender
  • LGMD2L
  • Muscular dystrophy


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