Summary
A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax=3.07 at Θ=0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.
Similar content being viewed by others
References
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster M, Moreau E, Wilson M, Bromlby W, Roderick T, Latt S (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 37:546–564
Arveiler B, Oberlé I, Mandel JL (1987) Genetic mapping of nine DNA markers in the q11→q22 region of the human X chromosome. Genomics 1:60–66
Ayazi S (1981) Choroideremia, obesity and congenital deafness. Am J Ophthalmol 92:63–69
Brunner H, Bennekom C van, Lambermon E, Tuerlings J, Oei T, Cremers CWRJ, Schröder C, Menzel D, Ropers HH (1986) Regional localization of Alport hereditary nephritis and X-linked deafness with stapes fixation on Xq. 7th International Congress of Human Genetics, Berlin 1986 (abstr)
Brunner HG, Bennekom CA van, Oei TL, Cremers CWRJ, Ropers HH (1988) Localisation of the gene for the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Clin Otolaryngol (in press) (abstr)
Cremers CWRJ (1985) Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes surgery. Am J Otol 6:243–246
Cremers CWRJ, Huygen PLM (1983) Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 6:179–185
Cremers CWRJ, Hombergen GCHJ, Scaf JJ, Huygen PLM, Volkers WS, Pinckers AJLG (1985) X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch Otolaryngol 111:249–254
Cremers FPM, Brunsmann F, vandePol TJR, Pawlowitzki H, Paulsen K, Wieringa B, Ropers HH (1987) Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet 32:421–423
Feinberg AP, Vogelstein B (1984) A technique for radiolabeling restriction endonuclease fragments to high specific activity. Anal Biochem 137:266–267
Fraser GR (1964) Profound childhood deafness. J Med Genet 1:118–151
Fraser GR (1965) Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 29:171–196
Koningsmark BW, Gorlin RJ (1976) Genetic and metabolic deafness. Saunders, Philadelphia
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465
McKusick VA (1986) Mendelian inheritance in man. Johns Hopkins University Press, Baltimore
Nance WE, Setleff RC, McLeod A, Sweeney A, Cooper C, McConnell (1971) X-Linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects 7:64–69
Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DA (1987) Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation. Proc Natl Acad Sci USA 84:6521–6525
Rosenberg T, Niebuhr E, Yang HM, Parving A, Schwartz M (1987) Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatr Genet 8:139–143
Thorpe P, Sellars S, Beighton P (1974) X-Linked deafness in a South-African kindred. S Afr Med Tydskr 48:587–590
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Brunner, H.G., van Bennekom, C.A., Lambermon, E.M.M. et al. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet 80, 337–340 (1988). https://doi.org/10.1007/BF00273647
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00273647