Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Jacqueline T. Hecht; Laura D. Nelson; Eric Crowder; Yang Wang; Frederick F.B. Elder; Wilbur R. Harrison; Clair A. Francomano; Christa K. Prange; Gregory G. Lennon; Michelle Deere; Jack Lawler

doi:10.1038/ng0795-325

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Jacqueline T. Hecht, Laura D. Nelson, Eric Crowder, Yang Wang, Frederick F.B. Elder, Wilbur R. Harrison, Clair A. Francomano, Christa K. Prange, Gregory G. Lennon, Michelle Deere, Jack Lawler

Research output: Contribution to journal › Article › peer-review

298 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	325-329
Number of pages	5
Journal	Nature genetics
Volume	10
Issue number	3
DOIs	https://doi.org/10.1038/ng0795-325
State	Published - Jul 1995
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia",

abstract = "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.",

author = "Hecht, {Jacqueline T.} and Nelson, {Laura D.} and Eric Crowder and Yang Wang and Elder, {Frederick F.B.} and Harrison, {Wilbur R.} and Francomano, {Clair A.} and Prange, {Christa K.} and Lennon, {Gregory G.} and Michelle Deere and Jack Lawler",

year = "1995",

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doi = "10.1038/ng0795-325",

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T1 - Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

AU - Hecht, Jacqueline T.

AU - Nelson, Laura D.

AU - Crowder, Eric

AU - Wang, Yang

AU - Elder, Frederick F.B.

AU - Harrison, Wilbur R.

AU - Francomano, Clair A.

AU - Prange, Christa K.

AU - Lennon, Gregory G.

AU - Deere, Michelle

AU - Lawler, Jack

PY - 1995/7

Y1 - 1995/7

N2 - 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.

AB - 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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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Abstract

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