Unique spectrum of GJB2 mutations in Mexico

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 11, 2012, Pages 1678-1680

  de la Luz Arenas Sordo, Maria ^a   Menendez, Ibis ^b   Hernández Zamora, Edgar ^a   Sirmaci, Asli ^b   Gutiérrez Tinajero, Diana ^a   McGetrick, Molly ^b   Murphy Ruiz, Paulina ^a   Leyva Juárez, Xolotl ^a   Huesca Hernández, Fabiola ^a   Dominguez Aburto, Juan ^a   Tekin, Mustafa ^b  

^a INSTITUTO NACIONAL DE REHABILITACIÓN   (Mexico)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Deafness; DFNB1; GJB2; GJB6; Mitochondrial MT RNR1; Nonsyndromic hearing loss; PolymorphismV27I

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DISEASE SEVERITY; ETHNIC GROUP; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HUMAN; MEXICAN; MTRNR1 GENE; NONSYNDRONIC HEARING LOSS; PRIORITY JOURNAL;

CONNEXINS; DEAFNESS; GENE DELETION; GENE FREQUENCY; HEARING LOSS; HETEROZYGOTE; HUMANS; MEXICO; MUTATION; POLYMORPHISM, GENETIC;

EID: 84867692443     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.08.005     Document Type: Article

References (31)

1. Morton C.C., Nance W.E. Newborn hearing screening. A silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
2. Morton N.E. Genetic epidemiology of hearing impairment. Ann. N.Y. Acad. Sci. 1991, 630:16-31.
3. Van Camp, R. Smith, The Hereditary Hearing Loss Homepage. July 30, 2012. http://hereditaryhearingloss.org/.
4. Tamayo M.L., Olarte M., Gálvez N., Gómez M., Frías J.L., Bernal J.E., et al. Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program. Int. J. Pediatr. Otorhinolaryngol. 2009, 73(January (1)):97-101.
5. Utrera R., Ridaura V., Rodriguez Y., Rojas M.J., Mago L., Angelli S., et al. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Genet. Test. 2007, 11(4):2007.
6. Gravina L.P., Foncuberta M.E., Prieto M.E., Garrido J., Barreiro C., Chertkoff L. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. Int. J. Pediatr. Otorhinolaryngol. 2010, 74:250-254.
7. de Freitas Cordeiro-Silva M., Barbosa A., Santiago M., Provetti M., Rabbi-Bortolini E. Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil. Braz. J. Otorhinolaryngol. 2010, 76(4):428-432.
8. E. Ballana, M. Ventayol, R. Rabionet, P. Gasparini, X. Estivill, Connexins and Deafness Home Page. http://www.crg.es/deafness.
9. Lipan M., Ouyang X., Yan D., Angeli S., Lin Du L., Liu X.Z. Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. Laryngoscope 2011, 121:811-814.
10. Shan J., Chobot-Rodd J., Castellanos R., Babcock M., Shanske A., Parikh S., et al. GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. Int. J. Pediatr. Otorhinolaryngol. 2010, 74:611-618.
11. Oljvelra C.A., Alexandrino F., Abe-Sandes K., Silva J.R., Maclelguerra A.T., Magna L.A., et al. Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians. Hum. Biol. 2004, 76(2):313-316.
12. Minarik G., Tretinarova D., Szemes T., Kadasi L. Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. Int. J. Pediatr. Otorhinolaryngol. 2012, 6:400-403.
13. del Castillo F.J., Rodri{dotless}guez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 2005, 42:588-594.
14. Wilch E., Azaiez H., Fisher R.A., et al. A Novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region the controls GJB2 and GJB6 expression. Clin. Genet. 2010, 78(3):267-274.
15. del Castillo F.J., del Castillo I. The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. Front. Biosci. 2011, 16:3252-3274.
16. Estivill X., Govea E., Barcelo C., Badenas E., Romero L., Morla R., et al. Familial progressive sensorineural deafness is mainly due to the mtRNA A1555G mutation and is enhanced by treatment of amynoglycosides. Am. J. Hum. Genet. 1998, 62:27-35.
17. Pandya A. Nonsyndromic hearing loss and deafness, mitochondrial. Gene Review™ (Internet) October 22, 1993-2004, University of Washington, Seatle, WA, (updated April 21, 2011). R.A. Pagon, T. Bird, C.R. Dolan (Eds.).
18. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann. N.Y. Acad. Sci. 1999, 28:99-109.
19. Liu X.Z., Pandya A., Angeli S., Telishi F., Arnos K.S., Nance W.E., et al. Audiological features of GJB2 (connexin 26) deafness. Ear Hear. 2005, 26:361-369.
20. Tekin M., Xia X.J., Erdenetungalag R., Filiz B.C., White T., Radnaabazar J., et al. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann. Hum. Genet. 2010, 74:155-164.
21. Scrimshaw B.J., Faed J.M., Warren P., Yun K.T. Rapid identification of A1555G mutation in human mitochondrial DNA implicated in amynoglycoside-induced toxicity. J. Hum. Genet. 1999, 44:388-390.
22. Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum. Mutat. 2001, 18(1):84-85.
23. Wang Y.C., Kung C.Y., Su M.C., et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur. J. Hum. Genet. 2002, 10(8):495-498.
24. Wu B.L., Linderman N., Lip V., et al. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet. Med. 2001, 4(4):279-288.
25. Meza G., Torres-Ruíz N.M., Tirado-Gutiérrez C., Aguilera P. mtDNA mutations, hearing loss and aminoglycoside treatment in Mexicans. Braz. J. Otorhinolaryngol. 2011, 77(5):573-576.
26. Bhalla S., Sharma R., Khandelwal G., Panda N.K., Khullar M. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int. J. Pediatr. Otorhinolaryngol. 2011, 75:356-359.
27. Kabahuma R.I., Ouyang X., Du L.L., Yan D., Hutchin T., Ramsay M., et al. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutation in non syndromic genetic hearing loss in a South African population. Int. J. Pediatr. Otorhinolaryngol. 2011, 75:611-617.
28. Su C.C., Li S.Y., Su M.C., Chen W.C., Yang J.J. Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. Eur. J. Hum. Genet. 2010, 18:1061-1064.
29. Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 1998, 62:792-799.
30. Xiao Z., Xie D. Gjb2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Chin. Med. J. 2004, 117(12):1797-2180.
31. Johnson N.A., Coram M.A., Shriver M.D., Romieu I., Barsh G.S., London S.J., et al. Ancestral components of admixed genomes in a Mexican cohort. PLoS Genet. 2011, 7(12):e1002410.