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

Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1
  • Humans
  • Lung Diseases / genetics*
  • Molecular Sequence Data
  • Muscle Proteins / chemistry
  • Muscle Proteins / genetics*
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Selenoproteins
  • Sequence Homology, Amino Acid
  • Spine / physiopathology*

Substances

  • Muscle Proteins
  • SELENON protein, human
  • Selenoproteins