RGD Reference Report - Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. - Rat Genome Database

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

Authors: Moghadaszadeh, B  Petit, N  Jaillard, C  Brockington, M  Roy, SQ  Merlini, L  Romero, N  Estournet, B  Desguerre, I  Chaigne, D  Muntoni, F  Topaloglu, H  Guicheney, P 
Citation: Moghadaszadeh B, etal., Nat Genet. 2001 Sep;29(1):17-8.
RGD ID: 1599352
Pubmed: PMID:11528383   (View Abstract at PubMed)
DOI: DOI:10.1038/ng713   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rigid spine muscular dystrophy 1  IAGP 1599352DNA:frameshift mutations more ...RGD 
rigid spine muscular dystrophy 1  ISOSELENON (Homo sapiens)1599352; 1599352DNA:frameshift mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Respiratory insufficiency  IAGP 1599352DNA:frameshift mutations more ...RGD 
Spinal rigidity  IAGP 1599352DNA:frameshift mutations more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Selenon  (selenoprotein N)

Genes (Mus musculus)
Selenon  (selenoprotein N)

Genes (Homo sapiens)
SELENON  (selenoprotein N)


Additional Information