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Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A
Author(s) -
Jaka Oihane,
Azpitarte Margarita,
PaisánRuiz Coro,
Zulaika Miren,
CasasFraile Leire,
Sanz Raúl,
Trevisiol Nathalie,
Levy Nicolas,
Bartoli Marc,
Krahn Martin,
López de Munain Adolfo,
Sáenz Amets
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24263
Subject(s) - limb girdle muscular dystrophy , muscular dystrophy , genetics , mutation , biology , dysferlin , exon , gene , point mutation , phenotype
ABSTRACT Limb‐girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 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>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 CAPN3 gene was found. This novel deletion comprised the terminal region of the GANC gene and the entire CAPN3 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. Muscle Nerve 50 : 448–453, 2014