Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher

Annals of Otology, Rhinology and Laryngology

Volumn 106, Issue 4, 1997, Pages 320-325

  Bykhovskaya, Yelena ^b   Wilson, David F ^d   Friedman, Rick A ^a,f   Tu, George ^b   Farnes, Lorne S ^e   Talbot, J Michael ^c   Fischel Ghodsian, Nathan ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e LONDON HEALTH SCIENCES CENTRE   (Canada)

^f UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

genetics; molecular analysis; perilymphatic gusher; X linked mixed deafness

Indexed keywords

DNA; DNA BINDING PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; DNA SEQUENCE; HUMAN; INTERNAL AUDITORY CANAL; MALE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PERILYMPH; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DNA BINDING; STAPES SURGERY; X CHROMOSOME LINKED DISORDER;

EID: 8244223172     PISSN: 00034894     EISSN: None     Source Type: Journal    
DOI: 10.1177/000348949710600411     Document Type: Article

References (28)

1. Ryan AF. Genetic pathogenesis and molecular biology of sensorineural hearing loss. Current Opinion Otolaryngol Head Neck Surg 1993;1:6-12.
2. Gorlin RJ. X-linked inheritance. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes, New York, NY: Oxford University Press, 1995:54-5.
3. Olson NR, Lehman RH. Cerebrospinal fluid otorrhea and the congenitally fixed stapes. Laryngoscope 1968;78:352-60.
4. Nance WE, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects 1971;4:64-9.
5. Cremers CWRJ, Huygen PLM. Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 1983;6:179-85.
6. Cremers CWRJ, Hombergen GCJH, Weniges RTR. Perilymphatic gusher and stapes surgery. A predictable complication? Clin Otolaryngol 1983;8:235-40.
7. Cremers CWRJ, Hombergen GCHJ, Scaf JJ, Huygen PLM, Volkers WS, Pinckers AJLG. X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch Otolaryngol 1985;111:249-54.
8. Cremers CWRJ. Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher. Am J Otol 1985;6:243-6.
9. Bento RF, Miniti A. X-linked mixed hearing loss: four case studies. Laryngoscope 1985;95:462-8.
10. Glasscock ME. The stapes gusher. Arch Otolaryngol 1973; 98:82-91.
11. Talbot JM, Wilson DF. Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher. Am J Otol 1994;15:177-81.
12. Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991;33:326-30.
13. Tang A, Parnes LS. X-linked progressive mixed hearing loss: computed tomography findings. Ann Otol Rhinol Laryngol 1994;103:655-7.
14. de Kok YJM, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995;276:685-8.
15. Bitner-Glindzicz M, Turnpenny P, Hoglund P, et al. Further mutations in brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 1995;4:1467-9.
16. Old JM. Fetal DNA analysis. In: Davies KE, ed. Human genetic diseases: a practical approach. Oxford, England: IRL Press, 1986:1-18.
17. Saiki RK, Gelfand DH, Stoffel S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239:487-91.
18. Klemm JD, Rould MA, Aurora R. Herr W, Pabo CO. Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules. Cell 1994;77:21-32.
19. Pabo CO, Sauer RT. Transcription factors: structural families and principles of DNA recognition. Annu Rev Biochem 1992;61:1053-95.
20. Okamoto K, Wakamiya M, Noji S, et al. A novel class of murine POU gene predominantly expressed in central nervous system. J Biol Chem 1993;268:7449-57.
21. Wallis C, Ballo R, Wallis G, Brighton P, Goldblatt J. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. Genomics 1988;3:299-301.
22. Brunner HG, van Bennekom CA, Lambennon EMM, et al. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet 1988;80:337-40.
23. Merry DE, Lesko JG, Sosnoski DM, et al Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989;45:530-40.
24. Cremers FPM, van de Pol DJR, Diergaarde PJ, et al. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 1989; 4:41-6.
25. Huber E, Bitner-Glindzicz M, de Kok YJM, et al. X-linked mixed deafness (DFN3) and characterization of the critical region allows the identification of novel microdeletions. Hum Mol Genet 1994;3:1151-4.
26. Herr W, Sturm RA, Clerc RG, et al. The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products. Genes Dev 1988; 2:1513-6.
27. Rosenfeld MG. POU-domain transcription factors: pouer-ful developmental regulators. Genes Dev 1991;5:897-907.
28. Ingraham HA, Albert VR, Chen R, et al. A family of POU-domain and PIT-1 tissue-specific transcription factors in pituitary and neuroendocrine development. Annu Rev Physiol 1990; 52:773-91.