Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A. Issue 3 (5th August 2014)

• Record Type: Journal Article
• Authors: Jaka, Oihane; Azpitarte, Margarita; Paisán‐Ruiz, Coro; Zulaika, Miren; Casas‐Fraile, Leire; Sanz, Raúl; Trevisiol, Nathalie; Levy, Nicolas; Bartoli, Marc; Krahn, Martin; López de Munain, Adolfo; Sáenz, Amets
• Is Part Of: Muscle & nerve. Volume 50:Issue 3(2014:Sep.)
• Page Start: 448
• Page End: 453
• Publication Date: 2014-08-05
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24263
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p>Limb‐girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the <italic>CAPN3</italic> gene is one of the most common of autosomal recessive limb‐girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis. There was an apparently homozygous mutation in exon 24, c.2465G&gt;T, p.(*822Leuext62*), and a lack of correlation in the disease segregation analyses. This suggested the presence of a genomic rearrangement. In fact, a heterozygous deletion of the entire <italic>CAPN3</italic> gene was found. This novel deletion comprised the terminal region of the <italic>GANC</italic> gene and the entire <italic>CAPN3</italic> gene. This finding points out the need to reconsider and adapt our current strategy of molecular diagnosis in order to detect these types of genomic rearrangements that escape standard mutation screening procedures. <italic>Muscle Nerve</italic><bold>50</bold>: 448–453, 2014</p> </abstract>