Mapping of DFNB12 a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 1061-1064

  Chaïb, Hassan ^a   Place, Christophe ^b,c   Salem, Nabiha ^b   Dodé, Catherine ^a   Chardenoux, Sébastien ^a   Weissenbach, Jean ^d   El Zir, Elie ^e   Loiselet, Jacques ^b   Petit, Christine ^a  

^a CNRS   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c INSTITUT PASTEUR   (France)

^d GÉNÉTHON   (France)

^e Sacre Coeur Hospital Baabda   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 10Q; CLINICAL ARTICLE; DNA RECOMBINATION; FEMALE; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MARKER GENE; MOUSE MUTANT; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0030054738     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.1061     Document Type: Article

References (40)

1. Morton, N. E. (1991). Genetic epidemiology of hearing impairment. In Genetics of hearing impairment. The New York Academy of Science, New York, 630, 16-31
2. Newton, V. E. (1985). Aetiology of bilateral sensorineural hearing loss in young children. J. Laryngol. Otol. (Suppl.), 10, 1-57.
3. Majumder, P. P., Ramesh, A. and Chinnappan, D. (1989). On the genetics of prelingual deafness. Am. J. Hum. Genet., 44, 86-99.
4. Brownstein, Z., Friedlander, Y., Peritz, E. and Cohen, T. (1991). Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling. Am. J. Med. Genet., 41, 306-312.
5. Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A. and Petit, C. (1994). A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet., 6, 24-28.
6. Guilford, P., Ayadi, H., Blanchard, S., Chaïb, H., Le Paslier, D., Weissenbach, J., Drira, M. and Petit, C. (1994). A human gene responsible for neurosensory, nonsyndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet., 3, 989-993.
7. Baldwin, C. T., Weiss, S., Farrer, L. A., De Stefano, A. L., Adair, R., Franklyn, B., Kidd, K. K., Korostishevsky, M. and Bonné-Tamir, B. (1995). Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet., 4, 1637-1642.
8. Veske, A., Oehlmann, R., Younus, F., Mohyuddin, A., Müller-Myhsok, B., Mehdi, S. Q. and Gal, A. (1996). Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet., 5, 165-168.
9. Chaïb, H., Place, C., Salem, N., Chardenoux, S., Vincent, C., Weissenbach, J., El-Zir, E., Loiselet, J. and Petit, C. (1996). A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum. Mol. Genet., 5, 155-158.
10. Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N. and Asher, J. H. (1995). A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet., 9, 86-91.
11. Lander, E. S. and Botstein, D. (1987). Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science, 236, 1567-1570.
12. Fukushima, K., Ramesh, A., Srisailapathy, C. R. S., Ni, L., Chen, A., O'Neil, M., Van Camp, G., Coucke, P., Smith, S. D., Kenyon, J. B., Jain, P., Wilcox, E. R., Zbar, R. I. S. and Smith, R. J. H. (1995). Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum. Mol. Genet., 4, 1643-1648.
13. Fukushima, K., Ramesh, A., Srisailapathy, C. R. S., Ni, L., Wayne, S., O'Neil, M. E., Van Camp, G., Coucke, P., Jain, P., Wilcox, E. R., Smith, S. D., Kenyon, J. B., Zbar, R. I. S. and Smith, R. J. H. (1995). An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res., 5, 305-308.
14. Jain, P. K., Fukushima, K., Deshmukh, D., Ramesh, A., Thomas, E., Lalwani, A. K., Kumar, S., Ploplis, B., Skarka, H., Srisailapathy, C. R. S., Wayne, S., Zbar, R. I. S., Verma, I. C., Smith, R. J. H. and Wilcox, E. R. (1995). A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. Mol. Genet., 4, 2391-2394.
15. Chaïb, H., Lina-Granade, G., Guilford, P., Plauchu, H., Levilliers, J., Morgon, A. and Petit, C. (1994). A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Mol. Genet., 3, 2219-2222.
16. Leon, P. E., Raventos, H., Lynch, E., Morrow, J. and King, M.-C. (1992). The gene for an inherited form of deafness maps to chromosome 5q31. Proc. Natl Acad. Sci. USA, 89, 5181-5184.
17. Coucke, P., Van Camp, G., Djoyodiharjo, B., Smith, S. D., Frants, R. R., Padberg, G. W., Darby, J. K., Huizing, E. H., Cremers, C. W. R. J., Kimberling, W. J., Oostra, B. A., Van de Heyning, P. H. and Willems, P. J. (1994). Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N. Engl. J. Med., 331, 425-431.
18. Chen, A. H., Ni, L., Fukushima, K., Marietta, J., O'Neil, M., Coucke, P., Willems, P. and Smith, R. J. H. (1995). Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum. Mol. Genet., 4, 1073-1076.
19. Tiranti, V., Rossi, E., Ruiz-Carrillo, A., Rossi, G., Rocchi, M., Di Donato, S., Zuffardi, O. and Zeviani, M. (1995). Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics, 25, 559-64.
20. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Öztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M. and Fischel-Ghodsian, N. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet., 4, 289-294.
21. Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat., 3, 243-247.
22. Steel, K. P. and Smith, R. J. H. (1992). Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nature Genet., 2, 75-79.
23. Epstein, D. J., Vekemans, M. and Gros, P. (1991). splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell, 67, 767-774.
24. Baldwin, C. T., Hoth, C. F., Amos, J. A., da-Silva, E. O. and Milunsky, A. (1992). An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature, 355, 637-638.
25. Tassabehji, M., Read, A. P., Newton, V. E., Patton, M., Grass, P., Harris, R. and Strachan, T. (1993). Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet., 3, 26-30.
26. Tassabehji, M., Newton, V. E., Leverton, K., Turnbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T. and Read, A. P. (1994). PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum. Mol. Genet., 3, 1069-1074.
27. Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P. and Brown, S. D. M. (1995). A type VII myosin encoded by the mouse deafness gene Shaker-1. Nature, 374, 62-64.
28. Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M. and Petit, C. (1995). Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature, 374, 60-61.
29. Deol, M. S. (1956). The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc. R. Soc. London Ser. B, 145, 206-213.
30. Deol, M. S. (1954). The anomalies of the labyrinth of the mutants Varitint-wadler, Shaker-2 and Jerker in the mouse. J. Genet., 52, 562-594.
31. Deol, M. S. and Robbins, M. W. (1962). The spinner mouse. J. Hered., 53, 133-136.
32. Deol, M. S. and Kocher, W. (1958). A new gene for deafness in the mouse. Heredity, 12, 463-466.
33. Burmeister, M., Sufalko, D., Kapfhamer, D. and Raphael, Y. (1994). Genetic mapping of the mouse mutation Ames Waltzer (av). in Mouse Genome Conference (eds, London)
34. Taylor, B. A., Burmeister, M. and Bryda, E. C. (1994). Mouse chromosome 10. Mamm. Genome, 5, S154-163.
35. Kocher, W. (1960). Untersuchungen zur Genetik und Pathologie des Entwicklung von 8 Labyrinth-Mutanten (deaf-waltzer-shaker-Mutanten) der Maus (Mus musculus). Z. Vererbn., 91, 114-140.
36. Southard, J. L. and Dickie, M. M. (1970). Jackson circler. Mouse Newslett., 42, 30.
37. Osako, S. and Hilding, D. A. (1971). Electron microscopic studies of capillary permeability in normal and Ames waltzer deaf mice. Acta Otolaryngol. (Stockh.), 71, 365-376.
38. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M. and Weissenbach, J. (1994). The 1993-94 Généthon human genetic linkage map. Nature Genet., 7, 246-339.
39. Lathrop, G. M., Lalouel, J. M., Julier, C. and Ott, J. (1985). Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37, 482-498.
40. Conneally, P. M., Edwards, J. H., Kidd, K. K., Lalouel, J-M., Morton, N. E., On, J. and White, R. (1985). Report of the committee on the methods of linkage analysis and reporting. Cytogenet. Cell Genet., 40, 356-359.