OMICs AND AI APPROACHES FOR MUSCLE DISEASES: O.05 Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

Abstract

Joint contractures are recurrent and sometimes prominent features in neuromuscular disorders, most notably in extracellular matrix (ECM)-related myopathies, such as COL6-related disorders (COL6-RD). Here, we report a patient with an atypical clinical presentation of congenital arthrogryposis, associated with distal hyperlaxity, proximal muscle deficit, dysphonia, dysphagia, mild ptosis and preserved respiratory function. At age 15, a COL6-RD was evoked and immunostaining of cutaneous fibroblasts from the patient revealed a subtle impairment of COLVI secretion; however, no mutation in the COL6A1-3 genes was identified.