Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Fiche publication
Date publication
mars 2017
Journal
Annals of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr THOMPSON Julie
Tous les auteurs :
Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J
Lien Pubmed
Résumé
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies. Our data uncover that mutations in MYPN cause either a cardiac or a congenital skeletal muscle disorder through different modes of inheritance. Ann Neurol 2017;81:467-473.
Mots clés
Adult, Consanguinity, Exome, Female, Humans, Male, Muscle Proteins, genetics, Mutation, Myopathies, Structural, Congenital, genetics, Pedigree
Référence
Ann. Neurol.. 2017 Mar;81(3):467-473