Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1

Abstract

Congenital generalized hypertrichosis (CGH) is a rare, fully penetrant X–linked dominant trait previously described in a single, multigenerational Mexican family. CGH is a visually striking phenotype characterized by excessive facial and upper torso hair in males and by less severe asymmetric hairiness in females. We have found significant evidence for linkage with several markers from the long arm of the X chromosome. Recombinant chromosomes place the CGH gene within a 22 cM interval between DXS425 and DXS1227 in Xq24–Xq27.1. The localization of a gene for CGH represents the first step towards the isolation of genes involved in hair growth pattern, particularly those involved in restriction of areas in humans.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Olsen, E.A. in Disorders of Hair Growth: Diagnosis and treatment (ed. Olsen, E.A.) 315–333 (McGraw-Hill, New York, 1994).

    Google Scholar 

  2. Danforth, C.H. Studies on hair. Arch. Dermatol. Syphilol. 11, 804–821 (1925).

    Article  Google Scholar 

  3. Baumeister, F.A.M., Egger, J., Schildhauer, M.T. & Stengel-Rutkowski, S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11. 2; q22). Clin. Genet. 44, 121–128 (1993).

    Article  CAS  PubMed  Google Scholar 

  4. Felgenhauer, W.R. Hypertrichosis lanuginosa universalis. J. Génét. Hum. 17, 1–44 (1969).

    CAS  PubMed  Google Scholar 

  5. Macias-Flores, M.A. et al. A new form of hypertrichosis inherited as an X-linked dominant trait. Hum. Genet. 66, 66–70 (1984).

    Article  CAS  PubMed  Google Scholar 

  6. Happle, R. Mosaicism in human skin. Arch. Dermatol. 129, 1460–1470 (1993).

    Article  CAS  PubMed  Google Scholar 

  7. McKusick, V.A., Mendelian Inheritance in Man. (Johns Hopkins University Press, Baltimore, 1994).

    Google Scholar 

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

    Google Scholar 

  9. Ott, J. Analysis of Human Genetic Linkage (The Johns Hopkins University Press, Baltimore, 1988).

    Google Scholar 

  10. Gyapay, G. et al. The 1993–94 Généthon human genetic linkage map. Nature Genet. 7, 246–339 (1994).

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  12. Willard, H.F. et al. Report of the Fifth International Workshop on Human X Chromosome Mapping 1994. Cytogenet. Cell Genet. 67, 296–328 (1994).

    CAS  Google Scholar 

  13. Upadhyaya, M. et al. Localisation of the gene for Hunter syndrome on the long arm of X chromosome. Hum. Genet. 74, 391–398 (1986).

    Article  CAS  PubMed  Google Scholar 

  14. Donnelly, A. et al. A linkage map of microsatellite markers on the human X chromosome. Genomics 20, 363–370 (1994).

    Article  CAS  PubMed  Google Scholar 

  15. Fuchs, E. & Byrne, C. The epidermis: rising to the surface. Curr. Opin. Genet. Devel. 4, 725–736 (1994).

    Article  CAS  Google Scholar 

  16. Hardy, M.H. The secret life of the hair follicle. Trends Genet. 8, 55–61 (1992).

    Article  CAS  PubMed  Google Scholar 

  17. Duggins, O.H. & Trotter, M. in The growth, replacement, and types of hair (ed. Minter, R.W.) 569–575 (Ann. New York Acad. Sci., New York, 1951).

    Google Scholar 

  18. Garn, S.M. in The growth, replacement, and types of hair (ed. Miner, R.W.) 498–507 (Ann. New York Acad. Sci., New York, 1951).

    Google Scholar 

  19. Reynolds, E.L. in The growth, replacement, and types of hair (ed. Miner, R.W.) 576–584 (Ann. New York Acad. Sci., New York, 1951).

    Google Scholar 

  20. Montagna, W. & Ellis, R.A. The biology of hair growth (Academic Press, New York, 1958).

    Google Scholar 

  21. Green, M.R., Phil, D. & Couchman, J.R. Distribution of epidermal growth factor receptors in rat tissues during embryonic skin development, hair formation, and the adult hair growth cycle. J. invest. Dermatol. 83, 118–123 (1984).

    Article  CAS  PubMed  Google Scholar 

  22. Lyons, K.M., Pelton, R.W. & Hogan, B.L.M. Organogenesis and pattern formation in the mouse: RNA distribution patterns suggest a role for Bone Morphogenetic Protein 2A (BMP-2A). Development 109, 833–844 (1990).

    CAS  PubMed  Google Scholar 

  23. Blessing, M., Nanney, L.B., King, L.E., Jones, C.M. & Hogan, B.L.M. Transgenic mice as a model to study the role of TGF-beta-related molecules in hair follicles. Genes Dev. 7, 204–215 (1993).

    Article  CAS  PubMed  Google Scholar 

  24. Hebert, J.M., Rosenquist, T., Gotz, J. & Martin, G.R. FGF5 as a regulator of the hair growth cycle: Evidence from targeted and spontaneous mutations. Cell 78, 1017–1025 (1994).

    Article  CAS  PubMed  Google Scholar 

  25. Beighton, P. Congenital hypertrichosis lanuginosa. Arch. Dermatol. 101, 669–672 (1970).

    Article  CAS  PubMed  Google Scholar 

  26. Freire-Maia, N. et al. Hypertrichosis lanuginosa in a mother and son. Clin. Genet. 10, 303–306 (1976).

    Article  CAS  PubMed  Google Scholar 

  27. Winter, G.B. & Simpkiss, M.J. Hypertrichosis with hereditary gingival hyperplasia. Arch. Dis. Child. 49, 394–399 (1974).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. McKusick, V.A. The mucopolysaccharidoses. Herit. Dis. Conn. Tiss. 521–686 (1972).

  29. Jackson, L., Kline, A.D., Barr, M.A. & Koch, S. de Lange syndrome: A clinical review of 310 individuals. Am. J. med. Genet. 47, 940–946 (1993).

    Article  CAS  PubMed  Google Scholar 

  30. Haspelslagh, M., Fryns, J.P. & vanden Berghe, H. The Coffin-Siris syndrome: report of a family and further delineation. Clin. Genet. 26, 374–378 (1984).

    Article  Google Scholar 

  31. Cantu, J.M., Garcia-Cruz, D., Sanchez-Corona, J., Hernandez, A. & Nazara, Z. A distinct osteochondrodysplasia with hypertrichosis-individualization of a probable autosomal recessive entity. Hum. Genet. 60, 36–41 (1982).

    Article  CAS  PubMed  Google Scholar 

  32. Janaki, V.R., Premalatha, S., Rao, N.R. & Thambiah, A.S. Lawrence-Seip syndrome. Br. J. Dermatol. 103, 693–696 (1980).

    Article  CAS  PubMed  Google Scholar 

  33. Schinzel, A. & Giedion, A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am. J. med. Genet. 1, 361–375 (1978).

    Article  CAS  PubMed  Google Scholar 

  34. Gorlin, R.J., Chaudhry, A.P. & Moss, M.L. Craniofacial hysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies: A new syndrome? J. Pediatr. 56, 778–785 (1960).

    Article  CAS  PubMed  Google Scholar 

  35. Diseases of the hair and scalp (eds Rook, A. & Dawber, R.) 256–282 (Blackwell Scientific Publications, London, 1991).

  36. Cantu, J.M. & Ruiz, C., On Atavisms and atavistic genes. Ann. Genet. 28, 141–142 (1985).

    CAS  PubMed  Google Scholar 

  37. Barth, J.H., Wilkinson, J.D. & Dawber, R.P.R. Prepubertal hypertrichosis: normal or abnormal? Arch. Dis. Child. 63, 666–668 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Cellini, A. & Offidani, A. Familial supernumerary nipples and breasts. Dermatology 185, 56–58 (1992).

    Article  CAS  PubMed  Google Scholar 

  39. Rampen, F.H.J. Naevocytic naevi as an atavism; their relationship to melanoma risk. Med. Hypotheses 27, 71–75 (1988).

    Article  CAS  PubMed  Google Scholar 

  40. Anderson, M.A. & Gusella, J.R. The use of cyclosporin A in establishing EBV-transformed human lymphoblastoid cell lines. In Vitro 20, 856–858 (1984).

    Article  CAS  PubMed  Google Scholar 

  41. Faiyaz-ul-Haque, M. et al. Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26–q26.1. Hum. Genet. 91, 17–19 (1993).

    Article  CAS  PubMed  Google Scholar 

  42. Lupski, J.R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).

    Article  CAS  PubMed  Google Scholar 

  43. Patel, P.I. et al. Isolation of a marker linked to the Charcot-Marie-Tooth disease type 1A gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am. J. hum. Genet. 47, 926–934 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  44. 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 

  45. Cottingham, R.W., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. hum. Genet. 53, 252–263 (1993).

    PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Figuera, L., Pandolfo, M., Dunne, P. et al. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1. Nat Genet 10, 202–207 (1995). https://doi.org/10.1038/ng0695-202

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0695-202

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing