ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Muscle & Nerve Année : 2014

ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Oihane Jaka
  • Fonction : Auteur
Margarita Azpitarte
  • Fonction : Auteur
Miren Zulaika
  • Fonction : Auteur
Leire Casas-Fraile
Raul Sanz
  • Fonction : Auteur
Nathalie Trevisiol
  • Fonction : Auteur
Adolfo Lopez De Munain
  • Fonction : Auteur
Amets Saenz
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-01610018 , version 1 (04-10-2017)

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Citer

Oihane Jaka, Margarita Azpitarte, Coro Paisan-Ruiz, Miren Zulaika, Leire Casas-Fraile, et al.. ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A. Muscle & Nerve, 2014, 50 (3), pp.448-453. ⟨10.1002/mus.24263⟩. ⟨hal-01610018⟩
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