| Marshall syndrome associated with a splicing defect at the COL11A1 locus. | |
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MedLine Citation:
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PMID: 9529347 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A J Griffith; L K Sprunger; D A Sirko-Osadsa; G E Tiller; M H Meisler; M L Warman |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 62 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-06-10 Completed Date: 1998-06-10 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 816-23 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA. griffith@aya.yale.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosomes, Human, Pair 1* Collagen / genetics* Craniofacial Abnormalities / genetics* Female Genome, Human Humans Male Mutation* Pedigree RNA Splicing / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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AR01925/AR/NIAMS NIH HHS; GM24872/GM/NIGMS NIH HHS; K08 HL02792/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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9007-34-5/Collagen |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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