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. 1997 Oct;61(4):924–927. doi: 10.1086/514892

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

M R Brown 1, M S Tomek 1, L Van Laer 1, S Smith 1, J B Kenyon 1, G Van Camp 1, R J Smith 1
PMCID: PMC1715982  PMID: 9382104

Abstract

Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in nature. We have ascertained a large, multigenerational family in which a gene for autosomal dominant NSHL is segregating. Affected individuals experience progressive hearing loss beginning in the 2d-4th decades, eventually making the use of amplification mandatory. A novel locus, DFNA13, was identified on chromosome 6p; the disease gene maps to a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum two-point LOD score of 6.409 at D6S299.

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Selected References

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  1. Brunner H. G., van Beersum S. E., Warman M. L., Olsen B. R., Ropers H. H., Mariman E. C. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet. 1994 Sep;3(9):1561–1564. doi: 10.1093/hmg/3.9.1561. [DOI] [PubMed] [Google Scholar]
  2. Cao M. Y., Thonnard J., Deggouj N., Gersdorff M., Philippe M., Osselaer J. C., Tomasi J. P. HLA class II-associated genetic susceptibility in idiopathic progressive sensorineural hearing loss. Ann Otol Rhinol Laryngol. 1996 Aug;105(8):628–633. doi: 10.1177/000348949610500808. [DOI] [PubMed] [Google Scholar]
  3. Cardon L. R., Smith S. D., Fulker D. W., Kimberling W. J., Pennington B. F., DeFries J. C. Quantitative trait locus for reading disability on chromosome 6. Science. 1994 Oct 14;266(5183):276–279. doi: 10.1126/science.7939663. [DOI] [PubMed] [Google Scholar]
  4. Chaïb H., Lina-Granade G., Guilford P., Plauchu H., Levilliers J., Morgon A., Petit C. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet. 1994 Dec;3(12):2219–2222. doi: 10.1093/hmg/3.12.2219. [DOI] [PubMed] [Google Scholar]
  5. Cottingham R. W., Jr, Idury R. M., Schäffer A. A. Faster sequential genetic linkage computations. Am J Hum Genet. 1993 Jul;53(1):252–263. [PMC free article] [PubMed] [Google Scholar]
  6. Geschwind N., Galaburda A. M. Cerebral lateralization. Biological mechanisms, associations, and pathology: I. A hypothesis and a program for research. Arch Neurol. 1985 May;42(5):428–459. doi: 10.1001/archneur.1985.04060050026008. [DOI] [PubMed] [Google Scholar]
  7. Grigorenko E. L., Wood F. B., Meyer M. S., Hart L. A., Speed W. C., Shuster A., Pauls D. L. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet. 1997 Jan;60(1):27–39. [PMC free article] [PubMed] [Google Scholar]
  8. Guillaudeux T., Mattei M. G., Depetris D., Le Bouteiller P., Pontarotti P. In situ hybridization localizes the human OTF3 to chromosome 6p21.3-->p22 and OTF3L to 12p13. Cytogenet Cell Genet. 1993;63(4):212–214. doi: 10.1159/000133537. [DOI] [PubMed] [Google Scholar]
  9. Hanson I. M., Gorman P., Lui V. C., Cheah K. S., Solomon E., Trowsdale J. The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6. Genomics. 1989 Nov;5(4):925–931. doi: 10.1016/0888-7543(89)90135-3. [DOI] [PubMed] [Google Scholar]
  10. Sheffield V. C., Weber J. L., Buetow K. H., Murray J. C., Even D. A., Wiles K., Gastier J. M., Pulido J. C., Yandava C., Sunden S. L. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet. 1995 Oct;4(10):1837–1844. doi: 10.1093/hmg/4.10.1837. [DOI] [PubMed] [Google Scholar]
  11. Van Camp G., Willems P. J., Smith R. J. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet. 1997 Apr;60(4):758–764. [PMC free article] [PubMed] [Google Scholar]
  12. Verhoeven K., Van Camp G., Govaerts P. J., Balemans W., Schatteman I., Verstreken M., Van Laer L., Smith R. J., Brown M. R., Van de Heyning P. H. A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am J Hum Genet. 1997 May;60(5):1168–1173. [PMC free article] [PubMed] [Google Scholar]
  13. de Kok Y. J., Vossenaar E. R., Cremers C. W., Dahl N., Laporte J., Hu L. J., Lacombe D., Fischel-Ghodsian N., Friedman R. A., Parnes L. S. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet. 1996 Sep;5(9):1229–1235. doi: 10.1093/hmg/5.9.1229. [DOI] [PubMed] [Google Scholar]
  14. de Kok Y. J., van der Maarel S. M., Bitner-Glindzicz M., Huber I., Monaco A. P., Malcolm S., Pembrey M. E., Ropers H. H., Cremers F. P. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 1995 Feb 3;267(5198):685–688. doi: 10.1126/science.7839145. [DOI] [PubMed] [Google Scholar]

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