Genetics of deafness in India

Indian Journal of Pediatrics

Volumn 71, Issue 6, 2004, Pages 531-533

  Ghosh, Manju ^a   Vijaya, R ^a   Kabra, Madhulika ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Deafness; GJB2 gene; Non syndromic; Syndromic

Indexed keywords

CONNEXIN 26;

ACCURACY; AUDITORY SYSTEM; CONFERENCE PAPER; EARLY DIAGNOSIS; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC RISK; HEARING IMPAIRMENT; HUMAN; INDIA; LINKAGE ANALYSIS; MEDICAL GENETICS; PREVALENCE; RISK FACTOR; SOUND TRANSMISSION;

EID: 3142727596     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02724296     Document Type: Conference Paper

References (21)

1. Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 2002; 11: 1229-1240.
2. Van Camp G, Smith RJH. Hereditary hearing loss homepage.
3. Petit C, Levilliers J, Hardelin JP. Molecular genetics of hearing loss. Ann Rev Genet 2001; 35: 589-646.
4. Gorlin RJ, Toreillo HV, Cohen MM. 1995. Hereditary hearing loss and its syndromes. Oxford University Press, New York.
5. Friedman TB, Griffith AJ. Human nonsyndromic sensorineural deafness. Ann Rev Genomics Hum Genet 2003; 4: 341-402.
6. Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S et al. Dominant and recessive deafness caused by mutafions mutations of a novel gene, TMC1, required for cochlear function. Nat Genet 2002; 30: 277-284.
7. Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR et al. CDH23 mutations and phenotype heterogeneity: a profile of 107 families with Usher syndrome and nonsyndromic deafness.
8. Ahmed ZM et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrometype 1F Am J Hum Genet 2001; 69: 25-34.
9. Brown KA, Janjua AH, Karbani G, Parry G, Noble A et al. Linkáge studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 1996; 5: 169-173.
10. Estiville X, Fortina P, Surrey S, Rabionet R, Melchionda S et al. Connexin 26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-398.
11. Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S et al. Linkage of DFNB1 to nonsyndromic neurosensory autosomal recessive deafness in Mediterranean families. Eur J Hum Genet 1997; 5: 83-88.
12. Morell RJ, Kim HJ, Hood LJ, Goforth L, Frederici K et al. Mutations in the Connexin 26 gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness. N Engl J Med 1998; 339: 1500-1505.
13. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Srisailapathy CRS et al. Identification of mutations in the Connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998; 11: 387-394.
14. Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PSN. Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJb2: Indian scenario. Am J Med Genet 2003; 120A: 180-184.
15. Ramshankar M, Girirajan S, Dagan O, Ravi Shankar R, Jalvi R, Rangasayee R et al. Contribution of connexin (GJB2) mutations and founder effect to nonsyndromic hearing loss in India. J Med Genet 2003;
16. Park HJ, Shaukat, Liu Xz, Hahn, Naz S, Ghosh M et al. Origins and frequencies of SLC26A4 (PDS) mutations in East and South Asians: Global implications for the epidemiology of deafness. J Med Genet 2003; 40: 242-248.
17. Ahmed ZM, Smith TN, Riazuddin S, Makashima T, Ghosh M, Bokhari S et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type 1C are allelic mutations of USH1C. Hum Genet 2002; 110: 527-531.
18. Petit C. Usher syndrome: from genetics to pathogenesis. Ann Rev Genomics Hum Genet 2001; 2: 271-297.
19. Jain P, lalwani AK, Li XC, Singleton TL, Smith TN, Chen A et al. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to a chromosomal region 11p14-p15.1, containing the Usher syndrome type 1C gene. Genomics 1998; 50: 290-292.
20. Jain PK, Fukushima K, Deshmukh D, Ramesh A, Thomas E et al. A human recessive neurosensory non-syndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. Hum Mol Genet 1995; 4: 2391-2394.
21. Liburd N, GhoshM, Riazuddin S, Naz S, Khan S, Ahmed Z et al. Novel mutations of Myo15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith Magenis syndrome. Hum Genet 2001; 109: 535-541.