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 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.
Moghadaszadeh
B
B
INSERM U523, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, 75651 Paris CEDEX 13, France.
Petit
N
N
Jaillard
C
C
Brockington
M
M
Quijano Roy
S
S
Merlini
L
L
Romero
N
N
Estournet
B
B
Desguerre
I
I
Chaigne
D
D
Muntoni
F
F
Topaloglu
H
H
Guicheney
P
P
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*
D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins