Recent progress in hereditary hearing loss

Current Opinion in Otolaryngology and Head and Neck Surgery

Volumn 7, Issue 5, 1999, Pages 259-265

  Morell, R J ^a  

^a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE ASSIGNMENT; HEARING LOSS; HUMAN; MEDICAL RESEARCH; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW;

EID: 0033280247     PISSN: 10689508     EISSN: None     Source Type: Journal    
DOI: 10.1097/00020840-199910000-00009     Document Type: Review

References (59)

1. Mitochondrial deafness mutations reviewed
2. Genetic epidemiology of hearing impairment
3. Localization of a gene for otosclerosis to chromosome 15q25-q26
4. A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration
5. A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36
6. Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness
7. Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31
8. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
9. DFNB20: A novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter
10. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
11. Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness
12. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
13. Update on nomenclature for human gene mutations
14. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
15. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
16. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
17. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
18. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene
19. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
20. Passage to India: The search for genes causing autosomal recessive nonsyndromic hearing loss
21. Connexin mutations and hearing loss
22. Connexin 26 gene linked to a dominant deafness
23. Connexin mutations in deafness
24. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoprantar keratoderma
25. Connexin-26 mutations in sporadic and inherited sensorineural deafness
26. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
27. A new exon in the 5′ untranslated region of the connexin32 gene
28. Gap junction genes Cx26 and Cx43 individually suppress the cancer phenotype of human mammary carcinoma cells and restore differentiation potential
29. Connexins are expressed in primary brain tumors and enhance the bystander effect in gene therapy
30. Role of connexin (gap junction) genes in cell growth control and carcinogenesis
31. Connexins in tumour suppression and cancer therapy
32. Direct gap junction communication between malignant glioma cells and astrocytes
33. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
34. Molecular markers for cell types of the inner ear and candidate genes for hearing disorders
35. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant healing impairment
36. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
37. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
38. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
39. Deafness linked to DFNA2: One locus but how many genes?
40. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
41. Nonsyndromic autosomal dominant progressive sensorineural hearing loss: Audiologic analysis of a pedigree linked to DFNA2
42. Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
43. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
44. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
45. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autesemal recessive ocular albinism (AROA)
46. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
47. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
48. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
49. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
50. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
51. A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9
52. Mapping and characterization of a novel cochlear gene in human and in mouse: A positional candidate gene for a deafness disorder, DFNA9
53. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
54. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
55. Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds
56. Nonsyndromic hearing impairment is associated with a mutation in DFNA5