Title: 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
Authors: Sarkozy, Anna ×
Hicks, Debbie
Hudson, Judith
Laval, Steve H
Barresi, Rita
Hilton-Jones, David
Deschauer, Marcus
Harris, Elizabeth
Rufibach, Laura
Hwang, Esther
Bashir, Rumaisa
Walter, Maggie C
Krause, Sabine
van den Bergh, Peter
Illa, Isabel
Pénisson-Besnier, Isabelle
De Waele, Liesbeth
Turnbull, Doug
Guglieri, Michela
Schrank, Bertold
Schoser, Benedikt
Seeger, Jürgen
Schreiber, Herbert
Gläser, Dieter
Eagle, Michelle
Bailey, Geraldine
Walters, Richard
Longman, Cheryl
Norwood, Fiona
Winer, John
Muntoni, Francesco
Hanna, Michael
Roberts, Mark
Bindoff, Laurence A
Brierley, Charlotte
Cooper, Robert G
Cottrell, David A
Davies, Nick P
Gibson, Andrew
Gorman, Gráinne S
Hammans, Simon
Jackson, Andrew P
Khan, Aijaz
Lane, Russell
McConville, John
McEntagart, Meriel
Al-Memar, Ali
Nixon, John
Panicker, Jay
Parton, Matt
Petty, Richard
Price, Christopher J
Rakowicz, Wojtek
Ray, Partha
Schapira, Anthony H
Swingler, Robert
Turner, Chris
Wagner, Kathryn R
Maddison, Paul
Shaw, Pamela J
Straub, Volker
Bushby, Kate
Lochmüller, Hanns #
Issue Date: Aug-2013
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:34 issue:8 pages:1111-1118
Article number: 10.1002/humu.22342
Abstract: 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.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Development and Regeneration, Campus Kulak Kortrijk
Department of Development and Regeneration - miscellaneous (+)
× corresponding author
# (joint) last author

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