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Biallelic pathogenic variants in the gene encoding nebulin NEB are a known cause of congenital myopathy. CysTer and c. Transcriptomic sequencing on patient muscle revealed that the extended splice variant c. Nebulin isoforms containing exon are known to be mutually exclusive with isoforms containing exon , and these isoforms are differentially expressed during development and in adult skeletal muscles.
Patients MRIs were compared to the known pattern of relative abundance of these two isoforms in muscle. We propose that the pattern of muscle involvement in these patients better fits the distribution of exon containing isoforms in muscle than with previously published MRI findings in NEB -related disease due to other variants. To our knowledge this is the first report hypothesizing disease pathogenesis through the alteration of isoform distributions in muscle.
Nemaline myopathies are a clinically heterogenous group of skeletal muscle diseases ranging from severe congenital-onset disease to milder childhood-onset disease. Biallelic pathogenic variants in NEB OMIM , a gene encoding nebulin, are a known cause for nemaline myopathy OMIM , belonging to a histologically defined subgroup of congenital myopathies Lehtokari et al. Nemaline myopathy usually presents congenitally with axial and proximal muscle weakness, prominent facial and bulbar weakness, and respiratory muscle weakness Lehtokari et al.
Milder phenotypes of nemaline myopathy with onset during childhood or adulthood presenting with distal muscle weakness have also been reported Lehtokari et al. Alternative splicing creates diversity of function from an otherwise limited number of genes. Differential splicing programs are well-established within skeletal muscle for various developmental states and between type I and type II myofibers; perturbations to these alternative isoform programs are known to drive muscle disease Nakka et al.
