Abstract
We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual onset and a nonprogressive course in most patients. We found LOD scores >6 with markers on chromosome 11q. Analysis of key recombinants maps this deafness gene (DFNA12) to a 36-cM interval on chromosome 11q22-24, between markers D11S4120 and D11S912. The critical regions for the recessive deafness locus DFNB2 and the dominant locus DFNA11, which were previously localized to the long arm of chromosome 11, do not overlap with the candidate interval of DFNA12.
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Selected References
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- 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]
- 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]
- DeBry R. W., Seldin M. F. Human/mouse homology relationships. Genomics. 1996 May 1;33(3):337–351. doi: 10.1006/geno.1996.0209. [DOI] [PubMed] [Google Scholar]
- Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
- Goldsborough A. S., Healy L. E., Copeland N. G., Gilbert D. J., Jenkins N. A., Willison K. R., Ashworth A. Cloning, chromosomal localization and expression pattern of the POU domain gene Oct-11. Nucleic Acids Res. 1993 Jan 11;21(1):127–134. doi: 10.1093/nar/21.1.127. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gstaiger M., Knoepfel L., Georgiev O., Schaffner W., Hovens C. M. A B-cell coactivator of octamer-binding transcription factors. Nature. 1995 Jan 26;373(6512):360–362. doi: 10.1038/373360a0. [DOI] [PubMed] [Google Scholar]
- Guilford P., Ayadi H., Blanchard S., Chaib H., Le Paslier D., Weissenbach J., Drira M., Petit C. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet. 1994 Jun;3(6):989–993. doi: 10.1093/hmg/3.6.989. [DOI] [PubMed] [Google Scholar]
- Hughes A. E. Optimization of microsatellite analysis for genetic mapping. Genomics. 1993 Feb;15(2):433–434. doi: 10.1006/geno.1993.1083. [DOI] [PubMed] [Google Scholar]
- Junker S., Brøndum-Nielsen K., Newell J. W., Matthias P., Tommerup N. Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer-binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization. Genomics. 1996 Apr 1;33(1):143–145. doi: 10.1006/geno.1996.0173. [DOI] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
- 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]
- Smith R. J., Lee E. C., Kimberling W. J., Daiger S. P., Pelias M. Z., Keats B. J., Jay M., Bird A., Reardon W., Guest M. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992 Dec;14(4):995–1002. doi: 10.1016/s0888-7543(05)80122-3. [DOI] [PubMed] [Google Scholar]
- Strubin M., Newell J. W., Matthias P. OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins. Cell. 1995 Feb 10;80(3):497–506. doi: 10.1016/0092-8674(95)90500-6. [DOI] [PubMed] [Google Scholar]
- Tamagawa Y., Kitamura K., Ishida T., Ishikawa K., Tanaka H., Tsuji S., Nishizawa M. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet. 1996 Jun;5(6):849–852. doi: 10.1093/hmg/5.6.849. [DOI] [PubMed] [Google Scholar]
- Veske A., Oehlmann R., Younus F., Mohyuddin A., Müller-Myhsok B., Mehdi S. Q., Gal A. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet. 1996 Jan;5(1):165–168. doi: 10.1093/hmg/5.1.165. [DOI] [PubMed] [Google Scholar]
- Weil D., Blanchard S., Kaplan J., Guilford P., Gibson F., Walsh J., Mburu P., Varela A., Levilliers J., Weston M. D. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995 Mar 2;374(6517):60–61. doi: 10.1038/374060a0. [DOI] [PubMed] [Google Scholar]
- 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]
- van Heyningen V., Little P. F. Report of the fourth international workshop on human chromosome 11 mapping 1994. Cytogenet Cell Genet. 1995;69(3-4):127–158. doi: 10.1159/000133953. [DOI] [PubMed] [Google Scholar]
