Functional analysis of a novel I71N mutation in the GJB2 gene among southern egyptians causing autosomal recessive hearing loss

Cellular Physiology and Biochemistry

Volumn 26, Issue 6, 2010, Pages 959-966

  Mohamed, Mostafa R ^a   Alesutan, Ioana ^b   Föller, Michael ^b   Sopjani, Mentor ^b   Bress, Andreas ^b   Baur, Manuela ^b   Salama, Ragaa H M ^a   Bakr, Mohamed S ^a   Mohamed, Mohamed A ^a   Blin, Nikolaus ^b   Lang, Florian ^b   Pfister, Markus ^b  

^a ASSIUT UNIVERSITY   (Egypt)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Connexins; Functional characterization; Gap junction; Non syndromic hearing loss; Xenopus laevis oocytes

Indexed keywords

ASPARAGINE; CONNEXIN 26; ISOLEUCINE;

ALLELE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DEPOLARIZATION; EGYPT; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEARING LOSS; HETEROZYGOTE; HUMAN; HUMAN CELL; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM; XENOPUS LAEVIS;

XENOPUS LAEVIS;

EID: 78651249032     PISSN: 10158987     EISSN: None     Source Type: Journal    
DOI: 10.1159/000324004     Document Type: Article

References (22)

1. Pfister M, Akyildiz S, Gunhan O, Maas-sen M, Rodriguez J, Zenner H, Apaydin F: A patient database application for hereditary deafness epidemiology and clinical research (H.E.A.R.): An effort for standardization in multiple languages. Eur Arch Otorhinolaryngol 2003;260:81-85.
2. Van Camp G, Smith R: 2009, http:// hereditaryhearingloss.org.
3. Nickel R, Forge A: Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg 2008;16:452-457.
4. Harris AL: Emerging issues of connexin channels: biophysics fills the gap. Q Rev Biophys 2001;34:325-472.
5. Maeda S, Nakagawa S, Suga M, Yamashita E, Oshima A, Fujiyoshi Y, Tsukihara T: Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 2009;458:597-602.
6. Stong BC, Chang Q, Ahmad S, Lin X: A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 2006;116:2205-10.
7. Snoeckx RL, Huygen PL, Feldmann D: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945-957.
8. Mercier G, Bathelier C, Lucotte G: Connexin 26 mutation 35delG: prevalence of carriers in various regions in France. Int J Pediatr Otorhinolaryngol 2005;69:1187-1190.
9. Wagner CA, Friedrich B, Stiawan I, Lang F, Bröer S: The use of Xenopus laevis oocytes for the functional characterization of heterologously expressed membrane proteins. Cell Physiol Biochem 2000;10:1-12.
10. Rothrock C, Murgia A, Sartorato E, Leonardi E, Wei S, Lebeis S, Yu L, Elfen-bein J, Fisher R, Friderici K: Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 2003;113:18-23.
11. Meguid NA, Omran MH, DardirAA, Abdel-Raouf ER, Ghorab IA, Abdel-Raouf HR, Elgarf WT: Study of 35delG in Congenital Sensorineural non-syndromic Hearing Loss in Egypt. J Appl Sci Res 2008;4:621-626.
12. Salvinelli F, Casale M, D'Ascanio L, Firrisi L, Greco F, Baldi A: Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis. J Laryngol Otol 2004;118:8-11.
13. Cryns K, Orzan E, Murgia A, Huygen PLM, Moreno F, del Castillo I, Cham-berlin G, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJH, Van Camp G: A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 2004;41:147-154.
14. Palmada M, Schmalisch K, Böhmer C, Schug N, Pfister M, Lang F, Blin N: Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol Disease 2006;22:112-118.
15. Kumar NM, Gilula NB: The gap junction communication channel. Cell 1996;84:381-389
16. Wei C, Xu X, Lo CW: Connexins and cell signaling in development and disease. Ann Rev Cell Dev Biol 2004;20:811-38.
17. Martin PE, Coleman SL, Casalotti SO, Forge A, Evans WH: Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness. Hum Mol Genet 1999;8:2369-2376.
18. Thonnissen E, Rabionet R, Arbones ML, Estivill X, Willecke K, Ott T: Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 2002;111:190-197.
19. Bruzzone R, Veronesi V, Gomes D, Bicego M, Duval N, Marlin S, Petit C, D'Andrea P, White TW: Loss of function, residual channel activity of connexion 26 mutations associated with non-syndromic deafness. FEBS Lett 2003;533:79-88.
20. Mese G, Londin E, Mui R, Brink PR, White TW: Altered gating properties of functional connexin 26 mutants associated with recessive non-syndromic hearing loss. Hum Genet 2004;115:191-199.
21. Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ: Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant connexin 26 M34T. FASEB J 2004;18:860-862.
22. Neocleous V, Portides G, Anastasiadou V, Phylactou LA: Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population. Int J Pediatr Otorhinolaryngol 2006;70:1473-1477. (Pubitemid 43884842)