Linkage of typical pseudoachondroplasia to chromosome 19

Jacqueline T. Hecht; Clair A. Francomano; Michael D. Briggs; Michelle Deere; Barbara Conner; William A. Horton; Matthew Warman; Daniel H. Cohn; Susan Halloran Blanton

doi:10.1016/S0888-7543(05)80370-2

Linkage of typical pseudoachondroplasia to chromosome 19

Jacqueline T. Hecht, Clair A. Francomano, Michael D. Briggs, Michelle Deere, Barbara Conner, William A. Horton, Matthew Warman, Daniel H. Cohn, Susan Halloran Blanton

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

46 Scopus citations

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.

Original language	English (US)
Pages (from-to)	661-666
Number of pages	6
Journal	Genomics
Volume	18
Issue number	3
DOIs	https://doi.org/10.1016/S0888-7543(05)80370-2
State	Published - Dec 1993
Externally published	Yes

ASJC Scopus subject areas

Genetics

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@article{75b89f9ac6d14c298ffdca11b18823ca,

title = "Linkage of typical pseudoachondroplasia to chromosome 19",

abstract = "Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.",

author = "Hecht, {Jacqueline T.} and Francomano, {Clair A.} and Briggs, {Michael D.} and Michelle Deere and Barbara Conner and Horton, {William A.} and Matthew Warman and Cohn, {Daniel H.} and Blanton, {Susan Halloran}",

note = "Funding Information: We thank all of the families who participated in this study. We thank Jennifer MeKeand, a genetic counseling student, for excellent technical support and Lynn Grace for helping with the manuscript. We are indebted to Robert W. Cottingham, Jr. for the use of his modified version of LINKMAP. This research was supported by NIH Grant R29 DE09954-02 and Shriners Hospital Grant 15,955 to J.T.H., Shriners Hospital Grant 15,953 to W.A.H., NIH Grant HD22657 to D.H.C., and NIH Grant P01 HG0037305 to C.A.F.",

year = "1993",

month = dec,

doi = "10.1016/S0888-7543(05)80370-2",

language = "English (US)",

volume = "18",

pages = "661--666",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "3",

}

TY - JOUR

T1 - Linkage of typical pseudoachondroplasia to chromosome 19

AU - Hecht, Jacqueline T.

AU - Francomano, Clair A.

AU - Briggs, Michael D.

AU - Deere, Michelle

AU - Conner, Barbara

AU - Horton, William A.

AU - Warman, Matthew

AU - Cohn, Daniel H.

AU - Blanton, Susan Halloran

N1 - Funding Information: We thank all of the families who participated in this study. We thank Jennifer MeKeand, a genetic counseling student, for excellent technical support and Lynn Grace for helping with the manuscript. We are indebted to Robert W. Cottingham, Jr. for the use of his modified version of LINKMAP. This research was supported by NIH Grant R29 DE09954-02 and Shriners Hospital Grant 15,955 to J.T.H., Shriners Hospital Grant 15,953 to W.A.H., NIH Grant HD22657 to D.H.C., and NIH Grant P01 HG0037305 to C.A.F.

PY - 1993/12

Y1 - 1993/12

N2 - Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.

AB - Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.

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DO - 10.1016/S0888-7543(05)80370-2

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VL - 18

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JO - Genomics

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Linkage of typical pseudoachondroplasia to chromosome 19

Abstract

ASJC Scopus subject areas

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