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Selenoprotein N, encoded by SELENON, is implicated in autosomal recessive congenital myopathies. A single unrelated proband presenting early‐onset axial muscle weakness, scoliosis, and respiratory insufficiency had muscle biopsy findings of fiber size variability and mini-core changes. Genetic analysis revealed compound heterozygosity for c.713dup (p.Asn238fs) and c.1315C>T (p.Arg439Ter) in trans, consistent with biallelic loss-of-function alleles (1 proband) (PMID:15792869). No segregation beyond the index case has been reported, and no functional studies have directly addressed this phenotype. Thus, the association between SELENON and desmin-related myopathy with Mallory body-like inclusions is classified as Limited. Additional cases and mechanistic assays are required to establish causality.
Key Take-home: Current evidence for SELENON in desmin-related myopathy with Mallory body-like inclusions is limited to a single AR case; further genetic and functional data are needed to inform diagnosis and counseling.
Gene–Disease AssociationLimitedOne unrelated proband with compound heterozygous variants, no reported segregation beyond proband ([PMID:15792869]) Genetic EvidenceLimitedSingle AR case with two LoF alleles observed in trans; no additional cases or segregation data Functional EvidenceLimitedNo direct functional studies linking SELENON variants to this specific myopathy subtype |