Genetic linkage analysis of 15 DFNB loci in a group of Iranian families with autosomal recessive hearing loss

Iranian Journal of Public Health

Volumn 40, Issue 2, 2011, Pages 34-48

  Tabatabaiefar, M A ^a,b,c   Alasti, F ^c,d   Zohour, M Montazer ^a,e   Shariati, L ^a,f   Farrokhi, E ^a   Farhud, D D ^g   Camp, G V ^c   Noori Daloii, M R ^f   Chaleshtori, M Hashemzadeh ^a  

^a SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^e TARBIAT MODARES UNIVERSITY   (Iran)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

ARNSHL; DFNB loci; Genetic linkage analysis; Iran

Indexed keywords

EID: 80755136769     PISSN: 22516085     EISSN: 22516093     Source Type: Journal    
DOI: None     Document Type: Article

References (52)

1. Tucci D, Merson MH, Wilson BS A summary of the literature on global hearing impairment: current status and priorities for action. Otol Neurotol, 31(1): 31-41.
2. Brink P, Stones M (2007). Examination of the relationship among hearing impairment, linguistic communication, mood, and social engagement of residents in complex continuing-care facilities. Gerontologist, 47(5): 633-41.
3. Smith RJ, Bale JF, Jr, White KR (2005). Sensorineural hearing loss in children. Lancet, 365(9462): 879-90.
4. ACMG (2002). Genetics Evaluation Guidelines for the Etiologic Diagnosis of CongenitalHearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med, 4(3): 162-71.
5. Schrijver I (2004). Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn, 6(4): 275-84.
6. Hilgert N, Smith RJ, Van Camp G (2009). Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res, 681(2-3): 189-96.
7. Morton NE (1991). Genetic epidemiology of hearing impairment. Ann N Y Acad Sci, 630: 16-31.
8. Van Laer L, Cryns K, Smith RJ, Van Camp G (2003). Nonsyndromic hearing loss. Ear Hear, 24(4): 275-88.
9. Van Camp G, Smith R (2010). HereditaryHearing Loss Homepage: http://hereditaryhearingloss. org/, updated July 2010
10. Saadat M, Ansari-Lari M, Farhud DD (2004). Consanguineousmarriage in Iran. Ann Hum Biol, 31(2): 263-69.
11. Hashemzadeh Chaleshtori M, Farhud DD, Patton MA (2007). Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations. Iranian J Publ Health, 36: 1-14.
12. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A (1989). A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res, 17(20): 8390.
13. Tabatabaiefar MA, Montazer Zohour M, Shariati L, Saffari Chaleshtori J, Ashrafi K, Gholami A, et al. (2010). Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNBLociin theIranian FamilieswithAutosomal Recessive Non-Syndromic Hearing Loss. J Sci I R Iran, 21(2): 105-12.
14. Lindner TH, Hoffmann K (2005). Easy LINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics, 21(3): 405-407.
15. Fishelson M, Geiger D (2004). Optimizing exact genetic linkage computations. J Comput Biol, 11(2-3): 263-75.
16. Thiele H, Nurnberg P (2005). HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics, 21(8):1730-32.
17. Marlin S, Garabedian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F (2001). Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg, 127(8): 927-33.
18. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al. (1997). Prelingual deafness: high prevalenceof a 30delGmutation in the connexin 26 gene. Hum Mol Genet, 6(12): 2173-77.
19. Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, WeipoltshammerK, Baumgartner WD, Wachtler FJ, Kirschhofer K (2005). GJB2mutationsin hearing impairment:identification of a broad clinical spectrum for improved genetic counseling. Laryngoscope, 115(3): 461-65.
20. Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, et al. (2005). GJB2 mutations: passage through Iran. Am J Med Genet A, 133A(2): 132-37.
21. Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus PT, Tocharoenthanaphol C, ThongnoppakhunW, Thawil C, Charoenpipop D, Pho-iam T, Thongpradit S, Duggal P (2004). High prevalence of V37I genetic variant in the connexin-26(GJB2)gene amongnon-syndromic hearing-impaired and controlThai individuals. Clin Genet, 66(5): 452-60.
22. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP (1999). The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet, 21(4): 440-43.
23. Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H (2006). Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. J Hum Genet, 51(9): 805-10.
24. Reardon W, CF OM, Trembath R, Jan H, Phelps PD (2000). Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM, 93(2): 99-104.
25. Dahl HH, Wake M, Sarant J, Poulakis Z, Siemering K, Blamey P (2003). Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations. Audiol Neurootol, 8(5): 263-68.
26. Boublik J, Park H, Radisic M, Tognana E, Chen F, Pei M, Vunjak-Novakovic G, Freed LE (2005). Mechanical properties and remodeling ofhybrid cardiac constructs made from heart cells, fibrin, and biodegradable, elastomeric knitted fabric. Tissue Eng, 11(7-8): 1122-32.
27. Kahrizi K, Mohseni M, Nishimura C, Bazazzadegan N, Fischer SM, Dehghani A, Sayfati M, Taghdiri M, Jamali P, Smith RJ, Azizi F, Najmabadi H (2009). Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr, 168(6): 651-53.
28. Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H (2007). Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q 13.3-q13.4. Ann Hum Genet, 71(Pt 2): 271-75.
29. Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S (2007). Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. HumGenet,120(6): 789-93.
30. Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, RobertsA, RichardsonH, Koob G, Najmabadi H, Ryan AF, Smith RJ, Muller U, Beutler B (2008). A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci USA, 105(38): 14609-614.
31. Tuxworth RI, Titus MA (2000). Unconventional myosins: anchors in the membrane traffic relay. Traffic, 1(1): 11-18.
32. Sadeghi A, Sanati M, Alasti F, Hashemzadeh Chaleshtori M, Mahmoudian S, Ataei M (2009). Contribution ofGJB2 mutations and four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qomprovinces of Iran. Iran J Biotechnol, 7(2): 108-211.
33. Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, BahloM, Smith RJ (2010). Variable hearing impairment in aDFNB2 family with anovelMYO7Amissensemutation. Clin Genet, 77(6): 563-71.
34. Kurima K, Yang Y, Sorber K, Griffith AJ (2003). Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Genomics,82(3): 300-308.
35. Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H (2005). Four novel TMC1 (DFNB7/DFNB11) mutations inTurkishpatientswith congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat, 26(6): 591.
36. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (1999). A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet, 21(4): 363-69.
37. Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C (2000). OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J HumGenet, 67(3): 591-600.
38. Houseman MJ, Jackson AP, Al-Gazali LI, Badin RA, Roberts E, Mueller RF (2001). A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. J Med Genet, 38(8): E25.
39. Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (2008). A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearingimpairment andauditoryneuropathy. Hum Mutat, 29(6): 823-31.
40. Legan PK, Lukashkina VA, Goodyear RJ, Kossi M, Russell IJ, Richardson GP (2000). A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron, 28(1): 273-285.
41. Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G (2008). A novel TECTAmutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol, 72(2): 249-55.
42. Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H (2007). Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A, 143A(14): 1623-29.
43. Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA (2000). The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet, 9(12): 1729-38.
44. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ (2003). Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet, 40(4): 242-48.
45. Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C (2006). Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet, 38(7): 770-78.
46. Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H (2007). Involvement of DFNB59 mutations in autosomalrecessive nonsyndromic hearing impairment. Hum Mutat, 28(7): 718-23.
47. Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH (2007). Novel mutations in the pejvakin gene are associated with autosomal recessive nonsyndromic hearing loss in Iranian families. Clin Genet, 72(3): 261-63.
48. Pareek CS, Pareek RS, Walawski K (2002). Novel linkage mapping approach using DNApooling in human and animal genetics. I. Detection of complex disease loci. J Appl Genet, 43(2): 175-92.
49. Johnson T (2007). Bayesian method for gene detection and mapping, using a case and control design and DNA pooling. Biostatistics, 8(3): 546-65.
50. Khatib H, Darvasi A, Plotski Y, Soller M (1994). Determiningrelativemicrosatelliteallele frequencies in pooled DNA samples. PCR Methods Appl, 4(1): 13-18.
51. Tabatabaiefar MA, Alasti F, Shariati L, Farrokhi L, Fransen E, Nooridaloii MR, Hashemzadeh Chaleshtori M, Van Camp G (2010). DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment. ClinGenet: doi: 10.1111/j. 1399-0004. 2010.01593.x.
52. Hilgert N, Smith RJ, Van Camp G (2009). Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med, 9(5): 546-64.