Article | Published:

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36


We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 (maximum lod score = 6.85, θ = 0). This region is homologous to a segment of mouse chromosome 5, where the mutations hammer toe (HM) and hemimelic extra toes (HX) have been mapped. These data suggest that human chromosome 7q36 and the homologous region of mouse chromosome 5 contain genes involved in limb pattern formation.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

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

  2. 2

    The Holy Bible, according to the authorized version; with notes explanatory and practical; prepared and arranged by d'Olyly, G. & Mant, R. (Oxford, Clarendon Press, 1817).

  3. 3

    Nicolai, J.-P.A. & Schoch, L.S. Polydactyly in the Bible. J. hand Surg. 11A, 293 (1986).

  4. 4

    Scott-Emuakpor, A.B. & Madueke, E.D.N. The study of genetic variation in Nigeria. II. The genetics of polydactyly. Hum. Hered. 26, 198–202 (1976).

  5. 5

    Lewandowski, R.C., & Yrnis, J.J. Phenotypic mapping in man. In New Chromosomal Syndromes (ed. Yunis, J. J.) 375–376 (Academic Press, New York, 1977).

  6. 6

    Temtamy, S.A. & McKusick, V.A. The Genetics of Hand Malformations (Alan R. Liss, New York, 1978).

  7. 7

    Vortkamp, A.M. & Grzeschik, K.-H. GUl3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539–540 (1991).

  8. 8

    Nicolai, J.-P.A. & Hamel, B.C.J. A family with complex bilateral polysyndactyly. J. hand Surg. 13A, 405–407 (1988).

  9. 9

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

  10. 10

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

  11. 11

    Hing, A.V., Helms, C. & Donis-Keller, H. VNTR and microsatellite polymorphisms within the subtelomeric region of 7q. Am. J. hum. Genet. 53, 509–517 (1993).

  12. 12

    Poole, S.J., Law, M.L., Kao, F.-T. & Lau, Y.-F. Isolation and chromosomal localization of the human En-2 gene. Genomics 4, 225–231 (1989).

  13. 13

    Martin, G.R. et al. Mapping of the two mouse engrailed-like genes: close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemlmelic extra-toes (Hx) on chromosome 5. Genomics 6, 302–308 (1990).

  14. 14

    Helms, C. et al. Closure of a genetic linkage map of human chromosome 7q with centromere and telomere polymorphisms. Genomics 14, 1041–1054 (1992).

  15. 15

    Bailer, M.G. et al. Female external genitalia and mullerian duct derivatives in a 46, XY infant with the Smith-Lemli-Opitz syndrome. Am. J. hum. Genet 28, 723–731 (1987).

  16. 16

    Berry, R. et al. Apparent Smith-Lemli-Opitz syndrome and Miller-Dicker syndrome in a family with segregating translocation t (7;17) (q34;p13. 1). Am. J. med. Genet. 34, 358–365 (1989).

  17. 17

    Dickie, M.M., Mouse News Lett. 38, 24 (1968).

  18. 18

    Knudsen, T.B. & Kochhar, D.M. The role of morphogenetic cell death during abnormal limb bud outgrowth in mice heterozygous for the dominant mutation Hemimelic-extra toe (Hm). J. Embryol. exp. Morphol. 65 (suppl.), 289–307 (1981).

  19. 19

    Green, M.C. Mouse News Lett. 31, 27 (1964).

  20. 20

    Sweet, H.O., Mouse News Lett. 66, 66 (1982).

  21. 21

    Kornberg, T. engrailed: A gene controlling compartment and segment formation in Drosophila. Proc. natn. Acad. Sci. U.S.A. 78, 1095–1099 (1981).

  22. 22

    McGinnis, W. & Krumlauf, R. Homeobox genes and axial patterning. Cell 68, 283–302 (1992).

  23. 23

    Morgan, B.A., Izpisua-Belmonte, J.-C., Duboule, D. & Tabin, C.J. Targeted misexpression of Hox-4.6 in the avian limb bud causes apparent homeotic transformations. Nature 358, 236–239 (1992).

  24. 24

    Chou, Y-H.W. et al. The gene responsible for familial hypocalciuric hypocalcemia maps to chromosome 3q in for unrelate families. Nature Genet. 1, 295–300 (1992).

  25. 25

    Anderson, M.A. & Gusella, J.F. Use of cyclosporin A in establishing Epstein-Barr virus transformed human lymphobiastic ceil lines. In vitro 20, 856–858 (1984).

  26. 26

    Richards, E.J. Preparation and analysis of DNA. In Current Protocols in Molecular Biology (eds Ausubel, R. M. et al.) (Green Publishing, New York, 1992).

  27. 27

    Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460–465 (1984).

  28. 28

    Ott, J. Analysis of Human Genetic Linkage (Johns Hopkins University Press, Baltimore, 1992).

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Further reading