Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Andrew J Griffith; Leslie K Sprunger; D. Alexa Sirko-Osadsa; George E Tiller; Miriam H Meisler; Matthew L Warman

doi:10.1086/301789

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Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Journal article

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Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Andrew J Griffith, Leslie K Sprunger, D. Alexa Sirko-Osadsa, George E Tiller, Miriam H Meisler and Matthew L Warman

American journal of human genetics, Vol.62(4), pp.816-823

1998

DOI: https://doi.org/10.1086/301789

Handle:

https://hdl.handle.net/2376/111984

PMCID: PMC1377029

PMID: 9529347

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https://doi.org/10.1086/301789View

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Abstract

Disease mutation

Collagen mutation

Skeletal dysplasia

Marshall syndrome

COL11A1

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 α1(XI) collagen polypeptide. The data support the hypothesis that the α1(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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Title: Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus
Creators: Andrew J Griffith - Department of Human Genetics, University of Michigan, Ann Arbor
Leslie K Sprunger - Department of Human Genetics, University of Michigan, Ann Arbor
D. Alexa Sirko-Osadsa - Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland
George E Tiller - Department of Pediatrics, Vanderbilt University School of Medicine, Nashville
Miriam H Meisler - Department of Human Genetics, University of Michigan, Ann Arbor
Matthew L Warman - Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland
Publication Details: American journal of human genetics, Vol.62(4), pp.816-823
Publisher: Elsevier Inc
Identifiers: 99900547314701842
Language: English
Resource Type: Journal article