title: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
abstract: 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 recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1). Here we refine the locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2). Our identification and analysis of mutations in SEPN1 is the first description of a selenoprotein implicated in a human disease.
authors.affiliation: INSERM U523, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, 75651 Paris CEDEX 13, France.
authors.forename: B
authors.initials: B
authors.lastname: Moghadaszadeh
authors.forename: N
authors.initials: N
authors.lastname: Petit
authors.forename: C
authors.initials: C
authors.lastname: Jaillard
authors.forename: M
authors.initials: M
authors.lastname: Brockington
authors.forename: S
authors.initials: S
authors.lastname: Quijano Roy
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: B
authors.initials: B
authors.lastname: Estournet
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.forename: D
authors.initials: D
authors.lastname: Chaigne
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008171:Lung Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D051140:Selenoproteins; D017386:Sequence Homology, Amino Acid; D013131:Spine / Q000503:physiopathology*
chemical_list: D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins