RGD Reference Report - Marshall syndrome associated with a splicing defect at the COL11A1 locus. - Rat Genome Database

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Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Authors: Griffith, AJ  Sprunger, LK  Sirko-Osadsa, DA  Tiller, GE  Meisler, MH  Warman, ML 
Citation: Griffith AJ, etal., Am J Hum Genet. 1998 Apr;62(4):816-23.
RGD ID: 1600881
Pubmed: PMID:9529347   (View Abstract at PubMed)
PMCID: PMC1377029   (View Article at PubMed Central)
DOI: DOI:10.1086/301789   (Journal Full-text)

Marshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically similar to the more common disorder Stickler syndrome. For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. The G+1-->A transition causes in-frame skipping of a 54-bp exon and deletes amino acids 726-743 from the major triple-helical domain of the alpha1(XI) collagen polypeptide. The data support the hypothesis that the alpha1(XI) collagen polypeptide has an important role in skeletal morphogenesis that extends beyond its contribution to structural integrity of the cartilage extracellular matrix. Our results also demonstrate allelism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
COL11A1HumanMarshall syndrome susceptibilityIAGP DNA:SNP:splice junction:RGD 
Col11a1RatMarshall syndrome susceptibilityISOCOL11A1 (Homo sapiens)DNA:SNP:splice junction:RGD 
Col11a1MouseMarshall syndrome susceptibilityISOCOL11A1 (Homo sapiens)DNA:SNP:splice junction:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Col11a1  (collagen type XI alpha 1 chain)

Genes (Mus musculus)
Col11a1  (collagen, type XI, alpha 1)

Genes (Homo sapiens)
COL11A1  (collagen type XI alpha 1 chain)


Additional Information