EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Muscle & Nerve Année : 2014

EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS

Résumé

Introduction: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger sequencing yields negative results in 10-20% of samples, warranting clinical re-evaluation and time-consuming testing of additional genes. This applies to dysferlinopathies caused by mutations in the gene encoding dysferlin (DYSF), which presents mainly as limb-girdle muscular dystrophy (LGMD) or distal myopathy. Methods: We evaluated exome sequencing associated with data filtering for selected genes as a second-tier approach for genetic diagnosis in a cohort of 37 patients with an initial negative result on targeted DYSF analysis. Results: Exome sequencing allowed for establishing (16%) or suggesting (8%) the molecular diagnosis by implicating other known LGMD or distal myopathy genes or by revealing DYSF mutations previously missed using mutation-screening techniques with incomplete detection yields. Conclusions: Exome sequencing associated with data filtering constitutes an efficient second-tier analysis for genes implicated in LGMD or distal myopathies.
Fichier principal
Vignette du fichier
EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACHbiff.pdf (57.79 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-01610020 , version 1 (15-12-2017)

Identifiants

Citer

Marc Bartoli, Jean-Pierre Desvignes, Nicolas Lévy, Martin Krahn. EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS. Muscle & Nerve, 2014, 50 (6), pp.1007-1010. ⟨10.1002/mus.24344⟩. ⟨hal-01610020⟩
182 Consultations
154 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More