A case report of SEPN1-related myopathy: Expanding the spectrum of clinical, genetic and radiological features

Abstract

SEPN1-related myopathies (SEPN1-RM) encompass a rare subset of neuromuscular disorders stemming from mutations in the SELENON gene. Here, we present a case of a 15-year-old Saudi child harboring an autosomal recessive homozygous c.2T>A. (chr1:25800232 T>A) (NM_020451.3), exhibiting a distinct clinical profile of hypotonia, motor delay, muscle weakness, scoliosis, and sleep apnea. Advanced genetic testing revealed additional heterozygous variants in the CNGA1 and BTD genes. Our report underscores the complexity of SEPN1-RM, highlighting the challenges in correlating genotypes with phenotypes and emphasizing the early onset of respiratory insufficiency in affected individuals. This case contributes novel insights to the clinical and genetic landscape of SEPN1-RM, emphasizing the need for continued research to enhance diagnostic and therapeutic strategies for improved patient care and outcomes.