Deafness genes

Journal of Medical and Dental Sciences

Volumn 47, Issue 1, 2000, Pages 1-11

  Kitamura, Ken ^a,d   Takahashi, Katsumasa ^b   Tamagawa, Yuya ^b   Noguchi, Yoshihiro ^a   Kuroishikawa, Yasushi ^a   Ishikawa, Kotaro ^b   Hagiwara, Hideo ^c  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c Nanae Clinic   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Deafness; DFN; DFNA; DFNB; Gene; Mitochondrial DNA

Indexed keywords

CARRIER PROTEIN; GAP JUNCTION PROTEIN; MITOCHONDRIAL DNA; SLC26A4 PROTEIN, HUMAN; SULFATE;

ADOLESCENT; ADULT; ANIMAL; CHILD; DISEASE MODEL; DOMINANT GENE; GENE DELETION; GENETIC LINKAGE; GENETICS; HEARING IMPAIRMENT; HUMAN; JAPAN; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MOUSE; MOUSE MUTANT; MUTATION; NEWBORN; PERCEPTION DEAFNESS; PRESCHOOL CHILD; RECESSIVE GENE; REVIEW; X CHROMOSOME;

ADOLESCENT; ADULT; ANIMALS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DISEASE MODELS, ANIMAL; DNA, MITOCHONDRIAL; GENE DELETION; GENES, DOMINANT; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; JAPAN; LINKAGE (GENETICS); MEMBRANE TRANSPORT PROTEINS; MICE; MICE, MUTANT STRAINS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; SULFATES; X CHROMOSOME;

EID: 0034148874     PISSN: 13428810     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Lynch ED, Ming KL, Morrow JE, et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315-1318.
2. Xia J-h, Liu C-y, Tang B-s, et al. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment. Nature Genet 1998; 20: 370-373.
3. Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999; 96: 437-446.
4. Kelsell DP, Dunlop J, Stevens HP, et al.Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-83.
5. Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genet 1999; 23: 16-17.
6. Laer LV, Huizing EH, Verstreken M, et al. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nature Genet 1998; 20: 194-197.
7. Verhoeven K, Laer LV, Kirschhofer K, et al. Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nature Genet 1998; 19: 60-62.
8. Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deaf-ness with vestibular dysfunction. Nature Genet 1998; 20: 299-303.
9. Fransen E, Verstreken M, Verhagen WIM, et al. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. Hum Mol Genet 1999; 8: 1425-1429.
10. Tamagawa Y, Kitamura K, Ishida T, et al. 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; 5: 849-852.
11. Liu X-Z, Walsh J, Tamagawa Y, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genet 1997; 17: 268-269.
12. McGuirt WT, Prasad SD, Griffith AJ, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genet 1999; 23: 413-419.
13. Vahava O, Morell R, Lynch ED, et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998; 279: 1950-1954.
14. Liu X-Z, Walsh J, Mburu P, et al.Mutations in the myosinVIIA gene cause non-syndromic recessive deafness. Nature Genet 1997; 16: 188-190.
15. Weil D, Kussel P, Blanchard S, et al.The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genet 1997; 16: 191-193.
16. Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1447-1451.
17. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nature Genet 1998; 18: 215-217.
18. Kitamura K, Takahashi K, Noguchi Y, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct, Acta Otolaryngol (Stockh) (in press)
19. Yasunagawa S, Grati M, Cohen-Salmon M, et al.A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature Genet 1999;21:363-369.
20. Mustapha M, Weil D, Chardenoux S, et al. An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999; 8: 409-412.
21. deKok 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; 267: 685-688.
22. Hagiwara H, Tamagawa Y, Kitamura K, et al. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness. Laryngoscope 1998; 108: 1544-1547.
23. Minowa O, Ikeda K, Sugitami T, et al. Altered cochlear fibrocytes in a mouse model of DFN3 Nonsyndromic deafness. Science 285; 1999: 1408-1411.
24. Tamagawa Y, Kitamura K, Hagiwara H, et al. Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA. Ann Otol Rhinol Laryngol 1997; 106:338-342.
25. Oshima T, Ueda N, Ikeda K, et al. Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan. Laryngoscope 109; 1999: 334-338.
26. Prezant T, Agapian J, Bohlman M, et al.Mitochondrial ribosomal RNA mutation associated with both antibiotics-induced and non-syndromic deafness. Nature Genet 1993; 4: 289-294.
27. Tamagawa Y, Kitamura K, Ishida T, et al.Mitochondrial DNA mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology. Acta Otolaryngol (Stockh) 1996; 116: 796-798.
28. Usami S, Abe S, Akita J, et al.Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet (in press).
29. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991; 67: 767-774.
30. Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355,: 635-636.
31. Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 1994; 8: 251-255.
32. Gibson F, Walsh J, Mburu P, et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995; 374: 62-64.
33. Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VII gene. Nature Genet 1997; 16: 191-193.
34. Probst FJ, Fridell RA, Raphael Y, et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAG transgene. Science 1998; 280: 1444-1447.
35. Takahashi K, Osawa N, Ohmura N, et al. Evaluation of inner ear histology and auditory brainstem response in Wriggle Mouse Sagami. Acta Otolaryngologica (Stockh) 1999; 119: 767-772.
36. 2+-ATPase gene causes deafness in Wriggle Mouse Sagami. Biochem Biophys Res Commun 1999: 261: 773-778.
37. Kitamura K, Yoshikawa Y, Ochikubo F. Morphological changes of cochlea in a strain of new-mutant mice. Acta Otolaryngol (Stockh) 1991; 111: 61-69.
38. Kitamura K, Yoshikawa Y, Ochikubo F. An ultrastructural study on vestibular sensory cells in a new-mutant mouse. Acta Otolaryngol (Stockh) 1991; 111: 1013-1020.
39. Kitamura K, Kakoi H, Yoshikawa Y, et al. Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol (Stockh) 1992; 112: 622-627.