Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Article type: Short Communication

Authors: Lornage, Xavière^{a; b; c; d} | Sabouraud, Pascal^e | Lannes, Béatrice^{d; f} | Gaillard, Dominique^g | Schneider, Raphaël^{a; b; c; d; h} | Deleuze, Jean-Françoisⁱ | Boland, Anneⁱ | Thompson, Julie^{d; h} | Böhm, Johann^{a; b; c; d} | Biancalana, Valérie^{a; b; c; d; j} | Laporte, Jocelyn^{a; b; c; d; *}

Affiliations: [a] Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France | [b] INSERM U1258, Illkirch, France | [c] CNRS, UMR7104, Illkirch, France | [d] Université de Strasbourg, Strasbourg, France | [e] Service de Pédiatrie A – Neurologie pédiatrique, CHU Reims, Reims, France | [f] Department of Pathology, Strasbourg University Hospital, Strasbourg, France | [g] Service de Génétique, CHU Reims, UFR médecine, Reims, France | [h] ICube – UMR7357, CSTB Complex Systems and Translational Bioinformatics, Faculté de Médecine, Strasbourg, France | [i] Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Evry, France | [j] Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Strasbourg, France

Correspondence: [*] Correspondence to: Dr. Jocelyn Laporte, IGBMC, 1 rue Laurent Fries, 67404 Illkirch, France. Tel.: +33 3 88 65 34 12; Fax: +33 3 88 65 32 01; E-mail: jocelyn@igbmc.fr.

Abstract: Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features.

Keywords: Centronuclear myopathy, myotubular myopathy, MTM1, myotubularin, SPEG, congenital myopathy

DOI: 10.3233/JND-170265

Journal: Journal of Neuromuscular Diseases, vol. 5, no. 2, pp. 257-260, 2018