The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen

C. A. Francomano, R. M. Liberfarb, Tatsuo Hirose, I. H. Maumenee, E. A. Streeten, D. A. Meyers, R. E. Pyeritz

Research output: Contribution to journalArticle

Abstract

The Stickler syndrome is an autosomal dominant hereditary disorder of connective tissue with pleiotropic features including premature osteoarthropathy, mild spondyloepiphyseal dysplasia, vitreoretinal degeneration, and the Pierre-Robin sequence. Genetic linkage studies in two families with the Stickler syndrome have been performed using restriction fragment length polymorphisms associated with the structural gene for type II collagen, COL2A1. No recombinants between the Stickler phenotype and COL2A1 were observed. The total LOD score for linkage of the Stickler syndrome and COL2A1 at a recombination fraction (θ) of zero is 3.59. These findings suggest that, at least in some families, the mutation causing Stickler syndrome affects the structural locus for type II collagen.

Original languageEnglish (US)
Pages (from-to)293-296
Number of pages4
JournalGenomics
Volume1
Issue number4
DOIs
StatePublished - Dec 1987

ASJC Scopus subject areas

  • Genetics

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    Francomano, C. A., Liberfarb, R. M., Hirose, T., Maumenee, I. H., Streeten, E. A., Meyers, D. A., & Pyeritz, R. E. (1987). The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen. Genomics, 1(4), 293-296. https://doi.org/10.1016/0888-7543(87)90027-9