A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
作者： Girish V Putcha , Bassem A Bejjani , Stacey Bleoo , Jessica K Booker , John C Carey
DOI: 10.1097/GIM.0B013E3180A03276
关键词: Etiology 、 Sensorineural hearing loss 、 Mutation 、 GJB6 、 Cohort 、 Genetics 、 Allele frequency 、 Compound heterozygosity 、 Hearing loss 、 Biology
摘要: Purpose: The aim of the study was to determine actual GJB2 and GJB6 mutation frequencies in North America after several years generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss help guide diagnostic algorithms, especially light molecular follow-up universal newborn screening. Methods: Mutation types, frequencies, ethnic distributions, genotype-phenotype correlations were assessed a very large American cohort. Results: variants identified 1796 (24.3%) 7401 individuals examined, with 399 (5.4%) homozygous 429 (5.8%) compound heterozygous. deletion performed 12.0% (888/7401) all cases. >300-kb only nine (1.0%), whom heterozygous mutations GJB6. Among total 139 identified, 53 (38.1%) previously unreported, presumably representing novel pathogenic or benign variants. Conclusions: frequency distribution sequence changes differ from those reported, suggesting considerable role loci other than etiology loss, minimal prevalence deletion.
nature.com
sci-hub.se 参考文章(65)
Verteporfin therapy of subfoveal choroidal neovascularization in pathologic myopia: 2-year results of a randomized clinical trial--VIP report no. 3. Ophthalmology. ,vol. 110, pp. 667- 673 ,(2003) , 10.1016/S0161-6420(02)01998-X
J Arnold, D Kilmartin, J Olson, S Neville, K Robinson, A Laird, C Richmond, A Farrow, S McKay, DA Saperstein, TM Aaberg, JB Johnson, R Waldron, D Loupe, J Gillman, B Myles, AP Schachat, NM Bressler, SB Bressler, P Nesbitt, T Porter, P Hawse, M Hartnett, A Eager, J Belt, D Cain, D Emmert, T George, M Herring, J McDonald, J Mones, B Corcostegui, M Gilbert, N Duran, M Sisquella, A Nolla, A Margalef, JW Miller, ES Gragoudas, AM Lane, N Emmanuel, A Holbrook, C Evans, US Lord, DK Walsh, CD Callahan, JL DuBois, H Lewis, PK Kaiser, LJ Holody, E Lesak, S Lichterman, H Siegel, A Fattori, G Ambrose, T Fecko, D Ross, S Burke, L Singerman, H Zegarra, M Novak, M Bartel, K Tilocco-DuBois, M Iic, S Schura, SJ Mayes, V Tanner, P Rowe, S Smith-Brewer, D Kukula, G Greanoff, G Daley, J DuBois, D Lehnhardt, GE Fish, BF Jost, R Anand, D Callanan, S Arceneaux, J Arnwine, P Ellenich, J King, H Aguado, R Rollins, B Jurklies, D Pauleikhoff, A Hintzmann, M Fischer, C Sowa, E Behne, CJ Pournaras, G Donati, AD Kapetanios, K Cavaliere, S Guney-Wagner, N Gerber, M Sickenberg, V Sickenberg, A Gans, B Hosner, A Sbressa, C Kozma, M Curchod, SA Cancelli, S Harding, YC Yang, M Briggs, S Briggs, V Tompkin, R Jackson, S Pearson, S Natha, J Sharp, JI Lim, C Flaxel, M Padilla, L Levin, F Walonker, L Cisneros, T Nichols, U Schmidt-Erfurth, I Barbazetto, H Laqua, R Kupfer, R Bulow, B Glisovic, T Bredfeldt, H Elsner, V Wintzer, D Bahlmann, S Michels, MS Blumenkranz, HL Little, R Jack, LM Espiritu, L Unyi, J Regan, L Lamborn, C Silvestri, RH Rosa, PJ Rosenfeld, ML Lewis, B Rodriguez, A Torres, N Munoz, T Contreras, M Galvez, D Hess, T Cubillas, I Rams, None, Photodynamic therapy of subfoveal choroidal neovascularization in pathologic myopia with verteporfin - 1-year results of a randomized clinical trial - VIP report no. 1 Ophthalmology. ,vol. 108, pp. 841- 852 ,(2001) , 10.1016/S0161-6420(01)00544-9
Jeffrey S. Heier, Andrew N. Antoszyk, Peter Reed Pavan, Steven R. Leff, Philip J. Rosenfeld, Thomas A. Ciulla, Richard F. Dreyer, Ronald C. Gentile, Judy P. Sy, Gary Hantsbarger, Naveed Shams, Ranibizumab for treatment of neovascular age-related macular degeneration: a phase I/II multicenter, controlled, multidose study. Ophthalmology. ,vol. 113, pp. 633- 642 ,(2006) , 10.1016/J.OPHTHA.2005.10.052
Takashi Tokoro, Hajime Fujikura, Yoshinori Seko, Yuko Seko, Hitoyata Shimokawa, Jijing Pang, Induction of vascular endothelial growth factor after application of mechanical stress to retinal pigment epithelium of the rat in vitro Investigative Ophthalmology & Visual Science. ,vol. 40, pp. 3287- 3291 ,(1999)
D R Hinton, P F Lopez, B D Sippy, H M Lambert, A B Thach, Transdifferentiated retinal pigment epithelial cells are immunoreactive for vascular endothelial growth factor in surgically excised age-related macular degeneration-related choroidal neovascular membranes Investigative Ophthalmology & Visual Science. ,vol. 37, pp. 855- 868 ,(1996)
Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres, Molecular epidemiology of DFNB1 deafness in France BMC Medical Genetics. ,vol. 5, pp. 5- 5 ,(2004) , 10.1186/1471-2350-5-5
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss Genetics in Medicine. ,vol. 4, pp. 162- 171 ,(2002) , 10.1097/00125817-200205000-00011
Evangelos S. Gragoudas, Anthony P. Adamis, Emmett T. Cunningham, Matthew Feinsod, David R. Guyer, Pegaptanib for Neovascular Age-Related Macular Degeneration The New England Journal of Medicine. ,vol. 351, pp. 2805- 2816 ,(2004) , 10.1056/NEJMOA042760
Takayuki Kudo, Katsuhisa Ikeda, Shigeo Kure, Yoichi Matsubara, Takeshi Oshima, Ken-ichi Watanabe, Tetsuaki Kawase, Kuniaki Narisawa, Tomonori Takasaka, Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. American Journal of Medical Genetics. ,vol. 90, pp. 141- 145 ,(2000) , 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G
Roberto Bruzzone, Thomas W. White, David L. Paul, Connections with connexins: the molecular basis of direct intercellular signaling FEBS Journal. ,vol. 238, pp. 1- 27 ,(1996) , 10.1111/J.1432-1033.1996.0001Q.X