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Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

Nature Genetics volume 7, pages 108–112 (1994)Cite this article

Abstract

Bardet–Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post–axial polydactylia, obesity and pigmentary retinopathy. We performed linkage analysis in 31 multiplex BBS families and report significant linkage with two markers on chromosome 11 q, PYGM and AFM164zf12 (D11S913). Homogeneity testing demonstrates genetic heterogeneity within our set of families. Our data imply that a major gene, BBS1, is located on chromosome 11q, although mutations at other loci may also be associated with this phenotype.

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References

  1. McKusick, V.A. Mendelian Inheritance in Man 10th edn (Johns Hopkins University Press, Baltimore, 1992).

    Google Scholar 

  2. Marmor, M.F. et al. Retinitis pigmentosa: A symposium on terminology and methods of examination. Ophthalmology. 90, 126–131 (1983).

    Article  Google Scholar 

  3. Höring, jr. Retinitis pigmentosa. Klin. monatsbl. Augenheilk. 2, 233–235 (1864).

    Google Scholar 

  4. Wecker, L. Annotations concernant le travail Hoering. Ann. Ocul. (Paris) 53, 73 (1865).

    Google Scholar 

  5. Bardet, G. Sur un syndrome d'obesité infantile avec polydactylie et rétinite pigmentaire. (Contributions á I'étude des formes clinique et I' obesité hypophysaire.) Univ. de Paris. Thesis no. 470 (1920).

  6. Biedl, A. Ein Geschwisterpaar mit adiposogenitaler dystrophie. Dtsch. med. Wochenschr. 48, 1630 (1922).

    Google Scholar 

  7. Raab, W. Klinische und röntgenologische Beiträge zur hypophysären zerebralen. Fettsucht und Genitalatrophie. Wien. Arch. inn. Med. 7, 443–530 (1924).

    Google Scholar 

  8. Radner, S. On Laurence-Moon-Biedl's syndrome. Acta med. Scand. 105, 141–152 (1940).

    Article  Google Scholar 

  9. Landau, J., Bromberg, Y.M. & Schorr, J. Laurence-Moon-Biedl syndrome with multiple congenital malformations of the urinary tract. Acta med. Orient. 8, 205–210 (1949).

    Google Scholar 

  10. Fraccaro, M. & Gastaldi, F. La patologia della sindrome di Laurence-Moon-Biedl. Folia hered. Pathol. (Pavia). 2, 177–214 (1953).

    Google Scholar 

  11. Ross, D.F., Crome, L. & MacKenzie, D.Y. The Laurence-Moon-Biedl syndrome. J. Pathol. Bacteriol. 72, 161–172 (1956).

    Article  PubMed  Google Scholar 

  12. Klein, D. & Ammann, F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: clinical, genetic and epidemiologic studies. J. neurol. Sci. 9, 479–513 (1969).

    Article  CAS  PubMed  Google Scholar 

  13. Bell, J. The Laurence-Moon syndrome. inThe Treasury of Human Inheritance 5, III (ed. Penrose, L. S.) 51–96 (Cambridge University Press, London, 1958).

    Google Scholar 

  14. Burn, R.A. Deafness and the Laurence-Moon-Biedl syndrome. Br. J. Ophthalmol. 34, 65–88 (1950).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Bauman, M.L. & Hogan, G.R. Laurence-Moon-Biedl syndrome: Report of two unrelated children less than 3 years of age. Am. J. Dis. Child. 126, 119–126 (1973).

    Article  CAS  PubMed  Google Scholar 

  16. Laurence, J.Z. & Moon, R.C. Four cases of “retinitis pigmentosa,” occurring in the same family, and accompanied by general imperfections of development. Ophthal. Rev. 2, 32–41 (1866).

    Google Scholar 

  17. Hutchinson, J. On retinitis pigmentosa and allied affections, as illustrating the laws of heredity. Ophthal. Rev. 1, 2–7 and 26–30 (1882).

    Google Scholar 

  18. Hutchinson, J. Slowly progressive paraplegia and disease of the choroids, with defective intellect and arrested sexual development in several brothers and a sister. Arch. Surg. (London) 11, 118–122 (1900).

    Google Scholar 

  19. Kapuscinski, W. Über familiäre Aderhautentartung mit ataktischen Störungen. Ber. Dtsch. Ophthalmol. Ges. 50, 13–19 (1934).

    Google Scholar 

  20. Green, J.S. et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. New Engl. J. Med. 321, 1002–1009 (1989).

    Article  CAS  PubMed  Google Scholar 

  21. Ammann, F. Investigations cliniques et génétiques sur le syndrome de Bardet-Biedl en Suisse. J. Génét. Hum. 18, Suppl. 1–310 (1970).

    Google Scholar 

  22. Dekaban, A.S., Parks, J.S. & Ross, G.T. Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. Med. Ann. D. C. 41, 687–694 (1972).

    CAS  Google Scholar 

  23. Cockayne, E.A., Krestin, D. & Sorsby, A. Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: the Laurence-Moon-Biedl syndrome. Quart. J. Med. 4, 93–120 (1935).

    Google Scholar 

  24. Sorsby, A., Avery, H. & Cockayne, E.A. Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: the Laurence-Moon-Biedl syndrome. Quart. J. Med. 8, 51–68 (1939).

    Google Scholar 

  25. Bergsma, D.R. & Brown, K.S. Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome. Birth Detects: Orig. Art. Ser. 11, 132–136 (1975).

    CAS  Google Scholar 

  26. Kwitek-Black, A.E. et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet. 5, 392–396 (1993).

    Article  CAS  PubMed  Google Scholar 

  27. Stone, E.M., Nichols, B.E., Streb, L.M., Kimura, A.E. & Sheffield, V.C. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet. 1, 246–250 (1992).

    Article  CAS  PubMed  Google Scholar 

  28. Bascom, R.A. et al. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neurons, 8, 1171–1184 (1992).

    Article  CAS  Google Scholar 

  29. Stevenson, R.E., Hall, J.G. & Goodman, R.M. (eds)Human Malformation and Related Anomalies Vol 2 Chapter 21, (Urinary Tract) 501–550, Chapter 28 (Hands and Feet) 805–843. (Oxford University Press, New York, 1993).

    Google Scholar 

  30. Lewis, R.A., Otterud, B., Stauffer, D., Lalouel, J.-M. & Leppert, M. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7, 250–256 (1990).

    Article  CAS  PubMed  Google Scholar 

  31. Iwasaki, H. et al. A minisatellite and a mlnisatellite polymorphism within 1.5 kb at the human muscle glycogen phosphorylase (PYGM) locus can be amplified by PCR and have combined informativeness of PIC 0. 95. Genomics 13, 7–15 (1992).

    Article  CAS  PubMed  Google Scholar 

  32. Polymeropoulos, M.H., Xiao, H., Rath, D.S. & Merril, C.R. Dinucleotide repeat polymorphism at the int-2 proto-oncogene locus (INT2). Nucl. Acids Res. 18, 7468 (1990).

    PubMed  PubMed Central  Google Scholar 

  33. Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992).

    Article  CAS  PubMed  Google Scholar 

  34. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome. Science 258, 67–86 (1992).

  35. Lathrop, G.M., Lalouel, J.-M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482–498 (1985).

    CAS  PubMed  PubMed Central  Google Scholar 

  36. Ott, J. Linkage analysis and family classification under heterogeneity. Ann. hum. Genet. 47, 311–320 (1983).

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Howard Hughes Medical Institute and the Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA

    Mark Leppert, Lisa Baird & Brith Otterud

  2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Kent L. Anderson, James R. Lupski & Richard Alan Lewis

  3. The Human Genome Center, Baylor College of Medicine, Houston, Texas, 77030, USA

    James R. Lupski

  4. The Cullen Eye Institute,

    Richard Alan Lewis

  5. the Departments of Ophthalmology, Medicine, Baylor College of Medicine, Houston, Texas, 77030, USA

    Richard Alan Lewis

  6. Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA

    James R. Lupski & Richard Alan Lewis

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Leppert, M., Baird, L., Anderson, K. et al. Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous. Nat Genet 7, 108–112 (1994). https://doi.org/10.1038/ng0594-108

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