The roles of connexin genes in sporadic hearing loss population

National Medical Journal of China

Volumn 87, Issue 16, 2007, Pages 1097-1101

  Li, Qing Zhong ^a   Wang, Qiu Ju ^b   Chi, Fang Lu ^b   Li, Li Na ^b   Zhao, Ya Li ^b   Yuan, Hu ^b   Han, Dong Yi ^b  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b NONE

Author keywords

Connexins; Deafness; GJB2; Mutation

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 31; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; CHINESE; COCHLEAR NERVE; CONTROLLED STUDY; EARLY DIAGNOSIS; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; NEUROPATHY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

CHINA; CONNEXINS; FEMALE; GENE FREQUENCY; HEARING LOSS; HUMANS; MALE; MUTATION; VARIATION (GENETICS);

EID: 34347234582     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Chinese source.
2. Orzan E, Murgia A. Connexin 26 deafness is not always congenital. Int J Pediatr Otorhinolaryngol, 2007, 71; 501-507.
3. Wu BL, Margaret K, Va L. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kbdeletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A, 2003, 121: 102-108.
4. del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med, 2002, 346: 243-249.
5. Chinese source.
6. Bergoffen J, Scherer SS, Wang S. Connexin mutations in X-linked Charcot- Marie-Tooth disease. Science, 1993, 262: 2039-2042.
7. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 1997, 387: 80-83.
8. Xia, JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet, 1998, 20: 370-373.
9. Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet, 1999, 23: 16-18.
10. Ahmad S, Tang W, Chang Q, et al. Restoration of connexin26 protein level in the cochlear completely rescues hearing in a mouse model of human connexin30- linked deafness. Proc Natl Acad Sci USA, 2007, 104:1337-1341.
11. Varga R, Kelley PM, Keats BJ, et al. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet, 2003, 40: 45-50.
12. Roux I, Safieddine S, Nouvian R, et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell, 2006, 127: 277-289.
13. Kim TB, Isaacson B, Sivakumaran TA, et al. A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J Med Genet, 2004, 41: 872-876.
14. Wang QJ, Li QZ, Rao SQ, et al. AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. J Med Genet, 2006, 43:e33.
15. Usami S, Abe S, Weston MD, et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutation. Hum Genet, 1999, 104: 188-192.
16. López-Bigas N, Olivé M, Rabionet R, et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet, 2001, 10: 947-952.
17. Scherer SS, Xu YT, Nelles E, et al. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia, 1998, 24: 8-20.
18. Tang W, Zhang Y, Chang Q, et al. Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice. J Neurosci, 2006, 26:1991-1999.
19. Propst EJ, Blaser S, Stockley TL, et al. Temporal bone imaging in GJB2 deafness. Laryngoscope, 2006, 116: 2178-2186.
20. Oguchi T, Ohtsuka A, Hashimoto S, et al. Clinical features of patients with GJB2 (connexin 26) mutations; severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet, 2005, 50: 76-83.