Mapping of DFN2 to Xq22

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 2055-2060

  Tyson, Jessica ^a   Bellman, Sue ^b   Newton, Valerie ^c   Simpson, Pat ^d   Malcolm, Sue ^a   Pembrey, Marcus E ^a   Bitner Glindzicz, Maria ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d Park Centre   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

ARTICLE; CHROMOSOME XQ; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; HEARING LOSS; HETEROZYGOTE; HUMAN; MALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0029841725     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.2055     Document Type: Article

References (33)

1. Rose, S.P., Conneally, P.M. and Nance, W.E. (1977). Genetic analysis of childhood deafness. In: Bess FH (ed.) Childhood Deafness, Grune and Stratton, New York, USA. pp 19-36.
2. McKusick, V.A. (1992). Mendelian Inheritance in Man, 10th edition. Baltimore, MD, USA.
3. Mohr, J. and Magerøy, K. (1960) Sex-linked deafness of a possibly new type. Acta Genet. Stat. Med. (Basel) 10, 54-62.
4. Tranebjœrg, L., Schwartz, C., Eriksen, H., Andreasson, S., Ponjavic, V., Dahl, A., Stevenson, R.E., May, M., Arena, F., Barker, D., Elverland, H.H. and Lubs, H. (1995) A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J. Med. Genet. 32, 257-263.
5. Wallis, C., Ballo, R., Wallis, G., Beighton, P. and Goldblatt, J. (1988) X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. Genomics 3, 299-308.
6. Brunner, H.G., van Bennekom, C.A., Lambermon, E.M.M., Oei, T.L., Cremers, C.W.R.J., Wieringa, B. and Ropers, H-H. (1988). The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum. Genet. 80, 337-340.
7. Reardon, W., Middleton-Price, H.R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M.E. and Malcolm, S. (1991). A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. Genomics 11, 885-894.
8. de Kok, Y.J.M., van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S., Pembrey, M.E., Ropers, H-H. and Cremers, F.P.M. (1995). Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267, 685-688.
9. Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriänen, H., Sankila, E-M., van der Maarel, S.M., de Kok, Y.J.M., Ropers, H-H., Cremers, F.P.M., Pembrey, M.E. and Malcolm, S. (1995). Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum. Mol. Genet. 4, 1467-1469.
10. Phelps, P.D., Reardon, W., Pembrey, M.E., Bellman, S. and Luxon, L. (1991). X-linked deafness, stapes gushers and a distinct defect of the inner ear. Neuroradiology 33, 326-330.
11. Dahl, N., Laporte, J., Hu, L.J., Biancalana, V., Le Paslier, D., Cohen, D., Piussan, C. and Mandel, J.L. (1995). Deletion mapping of X-linked mixed deafness (DFN3) identities a 265-525-kb region centromeric of DXS26. Am. J. Hum. Genet. 56, 999-1002.
12. de Kok, Y.J.M., Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H-J., Heilbronner, H., Graveline, J., den Dunnen, J.T., Brunner, H.G., Ropers, H-H. and Cremers, F.P.M. (1996). Novel microdeletions in 6 patients with X-linked deafness type 3 (DFN3) are located 900 kb proximal to the DFN3 gene, POU3F4. Hum. Mol. Genet. 5, 1229-1235.
13. Nelson, D., Ballabio, A., Cremers, F., Monaco, A. and Schlessinger, D. (1995). Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet. Cell. Genet. 71, 308-336.
14. Bitner-Glindzicz, M., de Kok, Y.J.M., Summers, D., Huber, I., Cremers, F.P.M., Ropers, H-H., Reardon, W., Pembrey, M.E. and Malcolm, S. (1994). Close linkage of a gene for X-linked deafness to 3 microsatellite repeats at Xq21 in radiologically normal and abnormal families. J. Med. Genet. 31, 916-921.
15. Lalwani, A.K., Brister, J.R., Fex, J., Grundfast, K.M., Pikus, A.T., Ploplis, B., San Agustin, T., Sharka, H. and Wilcox, E.R. (1994). A new non-syndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am. J. Hum. Genet. 55, 685-694.
16. Kawai, S., Nomura, S., Harano, T., Harano, K., Fukushima, T., Osawa, G. and the Japanese Alport Network (1996). The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. Kidney Int. 49, 814-822.
17. Heidet, L., Dahan, K., Zhou, J., Xu, Z., Cochat, P., Gould, J.D.M., Leppig, K.A., Proesmans, W., Guyot, C., Guillot, M., Roussel, B., Tryggvason, K., Grünfeld, J-P., Gubler, M-C. and Antignac, C. (1995). Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum. Mol. Genet. 4, 99-108.
18. Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J-M., Le Merrer, M., Gil, R. and Bœspflugtanguy, O. (1994). X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet. 6, 257-262.
19. Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarström, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C.I.E. and Bentley, D.R. (1993). The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361, 226-233.
20. Vorechovsky, I., Vetrie, D., Holland, J., Bentley, D.R., Thomas, K., Zhou, J.N., Notaragelo, L.D., Plebani, A., Fontan, G., Ochs, H.D., Hammarström, L., Sideras, P. and Smith, C.I.E. (1994). Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics 21, 517-524.
21. Reardon, W., Bellman, S., Phelps, P., Pembrey, M.E. and Luxon, L. (1993). Neuro-otologic function in X-linked hearing loss:A multipedigree assessment and correlation with other clinical parameters. Acta Oto-Laryngologica 113, 706-714.
22. Deraemaeker, R. (1958). Sex-linked congenital deafness. Acta Genet. Statist. Med. 8, 228-231.
23. Fraser, G.R. (1965). Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann. Hum. Genet. 29. 171-196.
24. McRae, K., Uchida, I., Lewis, M. and Denniston, C. (1969). Sex-linked congenital deafness. Am. J. Hum. Genet. 21, 415-422.
25. Parker, N. (1958). Congenital deafness due to a sex-linked recessive gene. Am. J. Hum. Genet. 10, 196-200.
26. Richards, B. (1963). Sex-linked deaf-mutism. Ann. Hum. Genet. 26, 195-199.
27. Sataloff, J., Pastore, P.H. and Bloom, E. (1955). Sex-linked hereditary deafness. Am. J. Hum. Genet. 7, 201-203.
28. Gyapay, G., Morisette, J., Vignal, A., Dib, C., Fizames, C. and Millasseau, P. (1994). The 1993-1994 Généthon human genetic-linkage map. Nature Genet. 7, 246-339.
29. Mimault, C., Cailloux, F., Giraud, G., Dastugue, B. and Bœspflugtanguy, O. (1995). Dinucleotide repeat polymorphism in the proteolipid (PLP) gene. Hum. Genet. 96, 236.
30. Barker, D., Clecerly, J. and Fain, P. (1992). Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22. Nucleic Acids Res. 20, 929.
31. Arveiler, B., Oberlé, I. and Mandel, J.L. (1987). Genetic mapping of nine DNA markers in the q11-q22 region of human X chromosome. Genomics 1, 60-66.
32. Feener, C.A., Boyce, F.M. and Kunkel, L.M. (1991). Rapid detection of CA polymorphisms in cloned DNA: Application to the 5′ region of the dystrophin gene. Am. J. Hum. Genet. 48, 621-627.
33. Clemens, P., Fenwick, R., Chamberlin, J., Gibbs, R., Deandrade, M., Chakraborty, R. and Caskey, C. (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49, 951-960.