Genetic hearing loss

Revista Brasileira de Otorrinolaringologia

Volumn 69, Issue 1, 2003, Pages 100-104

  Godinho, Ricardo ^a,b,c   Keogh, Ivan ^a   Eavey, Roland ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b PONTIFICAL CATHOLIC UNIVERSITY OF MINAS GERAIS   (Brazil)

^c NONE   (Brazil)

Author keywords

Connexin 26; Counseling; Genetics; Hearing loss

Indexed keywords

AGING; ARTICLE; AUDITORY SYSTEM; CHILDHOOD DISEASE; CLINICAL TRIAL; DEVELOPED COUNTRY; DIAGNOSTIC ACCURACY; DISEASE CLASSIFICATION; EAR INJURY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC HEARING LOSS; GENETICS; HEARING; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; INNER EAR; MEDICAL LITERATURE; MEDLINE; META ANALYSIS; MOLECULAR MECHANICS; PUBLICATION; SYSTEMATIC REVIEW;

EID: 2542452032     PISSN: 00347299     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0034-72992003000100016     Document Type: Article

References (28)

1. Lander ES, Linton LM, Birren B, Collins F, Morgan MJ, et al. Initial sequencing and analysis of the human genome. Nature 2001;409(6822):860-921.
2. Petit C. Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genetics 1996;14:385-391.
3. Van Laer L, Mc Guirt WT, Yang T, Smith RJH, Van Camp G. Autosomal dominant nonsyndromic hearing impairment. Amer J of Med Gen 1999;89:167-164.
4. Corwin JT. Identifying the genes of hearing, deafness, and dysequilibrium. Proc Nat Acad Sci USA 1998;95:12080-12082.
5. Keats BJB, Corey D. The Usher syndromes. Amer J of Med Gen 1999;89:158-166.
6. Leon PE, Raventos H, Lynch E, Morrow J, King MC. The gene for an inherited form of deafness maps to chromosome 5q31. Proc Nat Acad Sci USA 1992;89:5181-5184.
7. McKuski V. OMIM- On Line Mendelian Inheritance in Man. World Wide Web URL: http: ncbi.nlm.nih.org/omim/
8. Ludman H, Wright T. Diseases of the ear. New York: Oxford University Press; 1998.
9. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. World Wide Web URL: http:dnalab-www.uia.ac.be/dnalab/hhh/
10. Guilford P, Ben AS, Blanchard S, Levilliers J, Belkahia A, Petite C. A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature 1994;6:24-28.
11. Battey JF. A genetic approach to understanding inner ear function. The Journal of Clinical Investigation. 2000;106, 1431-1432.
12. Estivill X, Govea N, Barcelo A, Perello E, Zeviani M, Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A155G mutation and is enhanced by treatment with aminoglycosides. Amer J Hum Gen 1997;62:27-35.
13. Cohn ES, Kelley PM. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Amer J of Med Gen 1999;89:130-136.
14. Lubianca J, Lu L, Eavey R, et al. The Bjornstad syndrome (pili torti and sensorineural hearing loss) maps to chromosome 2q 34-35. Am J Hum Genet 1998;62:1107-1112.
15. Prezant TR, Agapian JV, Bohlman MC, Bu X, Qiu WQ, Arnos KS, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet 1993;4:289-294.
16. Kimberling WJ. Hereditary deafness. Amer J of Med Gen 1999;89:121-122.
17. Manolis E, Eavey R, Sangwatanaroj S, Halpin C, Rosenbaun H et al. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. Am J Otol 1999;20:621-629.
18. Hutchin TP, Cortopassi GA. Mitochondrial defects and hearing loss. Cell Mol Life Sci 2000;57:1927-1937.
19. Fischel-Ghodsian N. Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. Amer J Hum Gen 1998;62:15-19.
20. Brunger JW, Matthews AL, Smith RJH, Robin NH. Genetic testing and genetic counseling for deafness: the future is here. The Laryngoscope 2001;111:715-718.
21. Marlin S, Garabédian E, Roger G et al. Connexin 26 gene mutations in congenitally deaf children. Arch. Otolaryngol Head and Neck Surg 2001;127:927-932.
22. Robertson NG, Leonard L, Heller S, Merchant S, Eavey R, Nadol JB et al. Mutations in a novel cochlear gene causes DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nature Gen 1998;20:299-303.
23. Ghodosian NF. Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. Am J Human Genet 1998;62:15-19.
24. Everett L, Belyantseva IA, Noben-Trauth K, Cantos R, Wu DK, Green ED, Targeted disruption of mouse Pds provides insight about the inner ear defects encountered in Pendred syndrome. Hum Mol Gen 2001;10:153-161.
25. Hu DN, Qui WQ, Wu BT, Fang LZ, Yan JH et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet 1991;28:79-83.
26. Jennings CR, Jones NS. Presbycusis. J of Laryng and Otology 2001;115:171-178.
27. Steel K, Kros C. A genetic approach to understanding auditory function. Nature Genetics 2001;27:143-149.
28. Sundstrom RA, Van Laer L, Van Camp G, Smith RJH. Autosomal recessive non syndromic hearing loss. Amer J of Med Gen 1999;89:123-129.