Nature Genetics
10, 325 - 329 (1995)
doi:10.1038/ng0795-325
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaJacqueline T. Hecht1, Laura D. Nelson1, Eric Crowder1, Yang Wang1, Frederick F.B. Elder2, Wilbur R. Harrison2, Clair A. Francomano3, Christa K. Prange4, Gregory G. Lennon4, Michelle Deere1
& Jack Lawler5
1Department of Pediatrics, University of Texas Medical School at Houston, PO Box 20708, Houston, Texas 77225, USA
2Department of Pathology, University of Texas Medical School at Houston, PO Box 20708, Houston, Texas 77225, USA
3National Center for Human Genome Research, NIH, Bethesda, Maryland, USA
4Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94551, USA
5Division of Vascular Research, Department of Pathology, Brigham and Woman's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA Correspondence should be addressed to J.T.H. Pseudoachondroplasia (PSACH) is a well characterized dwarfing condition mapping to chromosome 19p12−13.1. Cartilage oligomeric matrix protein (COMP), a cartilage specific protein, maps to the same location within a contig that spans the PSACH locus. Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases. All mutations involve either a single base−pair change or a three base−pair deletion in exon 17B. Six mutations delete or change a well conserved aspartic acid residue within the calcium−binding type 3 repeats. These results demonstrate that mutations in the COMP gene cause pseudochondroplasia.
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