Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 May;62(5):1107–1112. doi: 10.1086/301837

The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

J F Lubianca Neto 1, L Lu 1, R D Eavey 1, M A Flores 1, R M Caldera 1, S Sangwatanaroj 1, J J Schott 1, B McDonough 1, J I Santos 1, C E Seidman 1, J G Seidman 1
PMCID: PMC1377094  PMID: 9545407

Abstract

We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at theta = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.

Full Text

The Full Text of this article is available as a PDF (469.8 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anniko M., Arnold W., Thornell L. E., Virtanen I., Ramaekers F. C., Pfaltz C. R. Regional variations in the expression of cytokeratin proteins in the adult human cochlea. Eur Arch Otorhinolaryngol. 1990;247(3):182–188. doi: 10.1007/BF00175974. [DOI] [PubMed] [Google Scholar]
  2. Asher J. H., Jr, Sommer A., Morell R., Friedman T. B. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat. 1996;7(1):30–35. doi: 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T. [DOI] [PubMed] [Google Scholar]
  3. Bauwens L. J., Veldman J. E., Bouman H., Ramaekers F. C., Huizing E. H. Expression of intermediate filament proteins in the adult human cochlea. Ann Otol Rhinol Laryngol. 1991 Mar;100(3):211–218. doi: 10.1177/000348949110000309. [DOI] [PubMed] [Google Scholar]
  4. Birnbaum P. S., Baden H. P. Heritable disorders of hair. Dermatol Clin. 1987 Jan;5(1):137–153. [PubMed] [Google Scholar]
  5. Cremers C. W., Geerts S. J. Sensorineural hearing loss and pili torti. Ann Otol Rhinol Laryngol. 1979 Jan-Feb;88(1 Pt 1):100–104. doi: 10.1177/000348947908800117. [DOI] [PubMed] [Google Scholar]
  6. Emonet N., Michaille J. J., Dhouailly D. Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins. J Dermatol Sci. 1997 Jan;14(1):1–11. doi: 10.1016/s0923-1811(96)00541-5. [DOI] [PubMed] [Google Scholar]
  7. Flock A., Bretscher A., Weber K. Immunohistochemical localization of several cytoskeletal proteins in inner ear sensory and supporting cells. Hear Res. 1982 May;7(1):75–89. doi: 10.1016/0378-5955(82)90082-x. [DOI] [PubMed] [Google Scholar]
  8. Hook E. B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet. 1977 Jan;29(1):94–97. [PMC free article] [PubMed] [Google Scholar]
  9. Höfer D., Drenckhahn D. Cytoskeletal differences between stereocilia of the human sperm passageway and microvilli/stereocilia in other locations. Anat Rec. 1996 May;245(1):57–64. doi: 10.1002/(SICI)1097-0185(199605)245:1<57::AID-AR10>3.0.CO;2-8. [DOI] [PubMed] [Google Scholar]
  10. Kurwa A. R., Abdel-Aziz A. H. Pili torti-congenital and acquired. Acta Derm Venereol. 1973;53(5):385–392. [PubMed] [Google Scholar]
  11. Marazita M. L., Ploughman L. M., Rawlings B., Remington E., Arnos K. S., Nance W. E. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet. 1993 Jun 15;46(5):486–491. doi: 10.1002/ajmg.1320460504. [DOI] [PubMed] [Google Scholar]
  12. Morton N. E. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16–31. doi: 10.1111/j.1749-6632.1991.tb19572.x. [DOI] [PubMed] [Google Scholar]
  13. Petit A., Dontenwille M. M., Bardon C. B., Civatte J. Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission. Clin Exp Dermatol. 1993 Jan;18(1):94–95. doi: 10.1111/j.1365-2230.1993.tb00983.x. [DOI] [PubMed] [Google Scholar]
  14. Petit C. Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet. 1996 Dec;14(4):385–391. doi: 10.1038/ng1296-385. [DOI] [PubMed] [Google Scholar]
  15. Reardon W. Genetic deafness. J Med Genet. 1992 Aug;29(8):521–526. doi: 10.1136/jmg.29.8.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Reed W. B., Stone V. M., Boder E., Ziprkowski L. Hereditary syndromes with auditory and dermatological manifestations. Arch Dermatol. 1967 May;95(5):456–461. [PubMed] [Google Scholar]
  17. Robinson G. C., Johnston M. M. Pili torti and sensory neural hearing loss. J Pediatr. 1967 Apr;70(4):621–623. doi: 10.1016/s0022-3476(67)80050-7. [DOI] [PubMed] [Google Scholar]
  18. Rousseau-Merck M. F., Simon-Chazottes D., Arpin M., Pringault E., Louvard D., Guénet J. L., Berger R. Localization of the villin gene on human chromosome 2q35-q36 and on mouse chromosome 1. Hum Genet. 1988 Feb;78(2):130–133. doi: 10.1007/BF00278181. [DOI] [PubMed] [Google Scholar]
  19. Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K., White R. E., Rodriguez-Tomé P., Aggarwal A., Bajorek E. A gene map of the human genome. Science. 1996 Oct 25;274(5287):540–546. [PubMed] [Google Scholar]
  20. Scott M. J., Jr, Bronson D. M., Esterly N. B. Björnstad syndrome and pili torti. Pediatr Dermatol. 1983 Jul;1(1):45–50. doi: 10.1111/j.1525-1470.1983.tb01091.x. [DOI] [PubMed] [Google Scholar]
  21. Tanigawa G., Jarcho J. A., Kass S., Solomon S. D., Vosberg H. P., Seidman J. G., Seidman C. E. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991–998. doi: 10.1016/0092-8674(90)90273-h. [DOI] [PubMed] [Google Scholar]
  22. Tassabehji M., Read A. P., Newton V. E., Harris R., Balling R., Gruss P., Strachan T. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 1992 Feb 13;355(6361):635–636. doi: 10.1038/355635a0. [DOI] [PubMed] [Google Scholar]
  23. Voigtländer V. Pili torti with deafness (Bjørnstad syndrome). Report of a family. Dermatologica. 1979;159(1):50–54. doi: 10.1159/000250561. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES