Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771 ), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency. A locus on 1p35-36 (RSMD1) was recentl y found to segregate with rigid spine muscular dystrophy 1 (ref. 1). Here w e refine the locus and find evidence of linkage disequilibrium associated w ith SEPN1, which encodes the recently described selenoprotein N (ref. 2). O ur identification and analysis of mutations in SEPN1 is the first descripti on of a selenoprotein implicated in a human disease.