Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

Abstract

Cohen syndrome is an autosomal recessive disorder characterized by mental and motor retardation, short stature, microcephaly, several dysmorphic features, major ocular symptoms and granulocytopenia. Major research challenges are the confusing nosology and the pleiotropy of the gene. We report the mapping of a locus (CHS1) by linkage analysis in as few as four two–generation pedigrees with uniform clinical features. CHS1 was assigned to an interval of approximately 10 cM between D8S270 and D8S521. Our results provide a tool to a more accurate definition of Cohen syndrome(s) and a starting point for the positional cloning of CHS1.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1

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

  2. 2

    Cohen, M.M., Jr., Hall, B.D., Smith, D.W., Graham, C.B. & Lambert, K.J. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J. Pediatr. 83, 280–284 (1973).

  3. 3

    Norio, R., Raitta, C. & Lindahl, E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopeniaand consanguinity. Clin. Genet. 25, 1–14 (1984).

  4. 4

    Raitta, C. & Norio, R. Cohen's syndrome. in The Eye in Systemic Disease (eds Gold, D.H. & Weingeist, T.A.) 565–568 (J.B. Lippincott, Philadelphia, 1990).

  5. 5

    Resnick, K., Zuckerman, J. & Collier, E. Cohen syndrome with bull's eye macular lesion. Ophthal. Paediat. Genet. 7, 1–18 (1986).

  6. 6

    Warburg, M., Pedersen, S.A. & Hørlyk, H., Cohen syndrome; retinal lesions and granulocytopenia. Opthal. Paediat. Genet. 11, 7–13 (1990).

  7. 7

    Kondo, I., Nagataki, S. & Miyagi, N., Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? Am. J. med. Genet. 37, 109–113 (1990).

  8. 8

    Steinlein, O., Tariverdian, G., Boll, H.U. & Vogel, F. Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. Am. J. med. Genet. 41, 196–200 (1991).

  9. 9

    Norio, R. & Raitta, C. Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? Am. J. med. Genet. 25, 397–398 (1986).

  10. 10

    Sack, J. & Friedman, E., Cohen syndrome in Israel. Israel J. med. Sci. 22, 766–770 (1986).

  11. 11

    Gyapay, G. et al. The 1993–1994 Généthon human genetic linkage map. Nature Genet. (in the press).

  12. 12

    Wood, S. et al. Report of the first international workshop on human chromosome 8 mapping. Cytogenet. Cell Genet. 64, 134–141 (1993).

  13. 13

    Cuticchia, J., Fasman, K.H., Kingsbury, D.T., Robbins, R.J. & Pearson, P.L. The GDB (TM) Human Genome Base Anno 1993. Nucl. Acids Res. 21, 3003–3006 (1993).

  14. 14

    Pearson, P.L., Matheson, N.W., Flescher, D.C. & Robbins, R.J. The GDB (TM) Human Genome Data Base Anno 1992. Nucl. Acids Res. 20 (supplement), 2201–2206 (1992).

  15. 15

    Pearson, P.L., Base (GDB) - a human gene mapping repository. Nucl. Acids Res. 19 (Supplement), 2237–2239 (1991).

  16. 16

    Cohen, D., Chumakov, I. & Weissenbach, J. A first-generation physical map of the human genome. Nature 366, 698–701 (1993).

  17. 17

    Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A. & Lander, E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204–211 (1992).

  18. 18

    Lehesjoki, A-E. et. al. Location of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum. molec. Genet. 2, 1229–1234 (1993).

  19. 19

    de la Chapelle, A. Disease gene mapping in isolated human populations: the example of Finland. J. med. Genet. 30, 857–865 (1993).

  20. 20

    Mom's, C.A., Carey, J.C. & Palumbos, J.C. Defining the Cohen syndrome. in Proceedings of the Greenwood Genetic Center (ed. Saul, R.A.) 6, 123 (Greenwood Genetic Center, 1987).

  21. 21

    Sierpienski-Bart, J., Neumann, E., Tirosh, E. & Atias, D. Tapetoretinal degeneration and mental retardation associated with microspherophakia and mesodermal abnormalities: a new syndrome? Metab. pediat. Ophtalmol. 5, 225–231 (1981).

  22. 22

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

  23. 23

    Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).

  24. 24

    Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A 81, 3443–3446 (1984).

  25. 25

    Weeks, D.E., Ott, J. & Lathrop, G.M. SLINK: a general simulation program for linkage analysis. Am. J. hum. Genet. 47 (3), A204 (Suplement) (1990).

  26. 26

    Ott, J. Computer-simulation methods in human linkage analysis. Proc. natn. Acad. Sci. U.S.A. 86, 4175–4178 (1989).

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Tahvanainen, E., Norio, R., Karila, E. et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 7, 201–204 (1994). https://doi.org/10.1038/ng0694-201

Download citation

Further reading