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Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22

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Abstract

Progressive pseudorheumatoid dysplasia (PPD), MIM 208230, is an autosomal-recessive disorder, clinically characterized by spondyloepiphyseal dysplasia and progressive arthropathy. Linkage analysis of three families of different geographic and ethnic origin, including 11 affected individuals, showed strong evidence for localization of a gene for progressive pseudorheumatoid dysplasia to chromosome 6q with a maximum two-point lod score for D6S1647 of 8.34 at θ=0. Analysis of regions of homozygosity placed the gene in a 3-cM interval between D6S1594 and D6S432. No significant shared haplotype was found for markers of the linked interval in the three families analyzed. Five genes encoding collagen and one encoding a specific procollagen-processing enzyme that map near this interval represent good candidates for the PPD gene.

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Authors and Affiliations

  1. CNRS URA 1922, Généthon, 1, rue de l’Internationale, F-91000 Evry, France e-mail: fischer@genethon.fr, Tel.: +33-147692800, Fax: +33-160778698, , , , , , FR

    J. Fischer, Sylvana Pavek, Claire Vandiedonck & Jean-François Prud’homme

  2. Institut de Myologie, Hôpital de la Salpêtrière, F-75013 Paris, France, , , , , , FR

    Jon Andoni Urtizberea

  3. Tischreen Hospital, Damascus, Syria, , , , ,

    Safa Saker & Yhia Alkatip

  4. Genoscope CNS, BP191, F-91006 Evry, France, , , , , , FR

    Thomas Bruls & Jean Weissenbach

Authors
  1. J. Fischer
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  2. Jon Andoni Urtizberea
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  3. Sylvana Pavek
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  4. Claire Vandiedonck
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  5. Thomas Bruls
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  6. Safa Saker
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  7. Yhia Alkatip
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  8. Jean-François Prud’homme
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  9. Jean Weissenbach
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Received: 12 February 1998 / Accepted: 10 March 1998

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Fischer, J., Urtizberea, J., Pavek, S. et al. Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22. Hum Genet 103, 60–64 (1998). https://doi.org/10.1007/s004390050784

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  • DOI: https://doi.org/10.1007/s004390050784

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