[1] Looi LM, Ganten D, McGrath PF, Gross M, Griffin GE. Hearing loss: a global health issue. Lancet , 2015, 385(9972): 943-944. [2] Cohen MM, Gorlin RJ. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM. Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press, 1995: 457. [3] Tekin M, Arnos KS, Pandya A. Advances in hereditary deafness. Lancet , 2001, 358(9287): 1082-1090. [4] Simon A, Xi L, Xue ZL. Genetics of Hearing and Deafness. Anat Rec , 2012, 295(11): 1812-1829. [5] Van Camp G, Smith R. Hereditary hearing loss homepage. http: //hereditaryhearingloss.org/. [6] Fransen E, Van Camp G. The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction? Br J Audio , 1999, 33(5): 297-302. [7] Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics , 1994, 23(1): 42-50. [8] Kamaraj B, Purohit R. In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3. BioMed Res Int , 2013, 2013: 697051. [9] Kumar A, Rajendran V, Sethumadhavan R, Purohit R. Computational investigation of cancer-associated molecular mechanism in Aurora A (S155R) mutation. Cell Biochem Biophys , 2013, 66(3): 787-796. [10] Wang LL, Li Y, Zhou SF. Prediction of deleterious non-synonymous single nucleotide polymorphisms of genes related to ethanol-induced toxicity. Toxicol Letter , 2009, 187(2): 99-114. [11] Kumar A, Purohit R. Computational investigation of pathogenic nsSNPs in CEP63 protein. Gene , 2012, 503(1): 75-82. [12] Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro ANA. Determination of cancer risk associated with germ line brca1 missense variants by functional analysis. Cancer Res , 2007, 67(4): 1494-1501. [13] Goldgar DF, Easton DF, Deffenbaugh AM, Monteiro ANA, Tavtigian SV, Couch FJ, Breast Cancer Information Core (BIC) Steering Committee. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to Brca1 and Brca2 . Am J Hum Genet , 2004, 75(4): 535-544. [14] Karchin R. Next generation tools for the annotation of human SNPs. Brief Bioinform , 2009, 10(1): 35-52. [15] Wang LL, Yang AK, Li Y, Liu JP, Zhou SF. Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study. Alcohol , 2010, 44(5): 425-438. [16] Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res , 2001, 29(1): 308-311. [17] Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, Cooper DN. The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet , 2014, 133(1): 1-9. [18] Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. Sift web server: Predicting effects of amino acid substitutions on proteins. Nucleic Acids Res , 2012, 40(Web Server issue): W452-W457. [19] Ng PC, Henikoff S. Sift: Predicting amino acid changes that affect protein function. Nucleic Acids Res , 2003, 31(13): 3812-3814. [20] Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods , 2010, 7(4): 248-249. [21] Capriotti E, Fariselli P, Calabrese R, Casadio R. Predicting protein stability changes from sequences using support vector machines. Bioinformatics , 2005, 21(Suppl. 2): ii54-ii58. [22] Capriotti E, Calabrese R, Casadio R. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics , 2006, 22(22): 2729-2734. [23] Li B, Krishnan VG, Mort ME, Xin FX, Kamati KK, Cooper DN, Mooney SD, Radivojac P. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics , 2009, 25(21): 2744-2750. [24] Schwede T, Kopp J, Guex N, Peitsch MC. SWISS- MODEL: An automated protein homology-modeling server. Nucleic Acids Res , 2003, 31(13): 3381-3385. [25] de Kok YJM, Bom SJH, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PLM, Verhagen WIM, Brunner HG, Cremers CWRJ, Cremers FPM. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet , 1999, 8(2): 361-366. [26] Collin RWJ, Pauw RJ, Schoots J, Huygen PLM, Hoefsloot LH, Cremers CWRJ, Kremer H. Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). Am J Med Genet A , 2006, 140(16): 1791-1794. [27] Robertson NG, Lu LY, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet , 1998, 20(3): 299-303. [28] Kamarinos M, McGill J, Lynch M, Dahl H. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat , 2001, 17(4): 351. [29] Pauw RJ, Huygen PLM, Collin RWJ, Cruysberg JRM, Hoefsloot LH, Kremer H, Cremers CWRJ. Phenotype description of a novel DFNA9/COCH mutation, I109T. Ann Otol Rhinol Laryngol , 2007, 116(5): 349-357. [30] Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PLM, Smith RJH, Bahlo M. A novel mutation in COCH ——implications for genotype-phenotype correlations in DFNA9 hearing loss. Laryngoscope , 2010, 120(12): 2489-2493. [31] Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK. A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. J Mol Med , 2012, 90(11): 1321-1331. [32] Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID. Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. Am J Otolaryngol , 2013, 34(3): 230-235. [33] Wang Z, Moult J. SNPs, protein structure, and disease. Hum Mutat , 2001, 17(4): 263-270. [34] Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN. Human gene mutation database——a biomedical information and research resource. Hum Mutat , 2000, 15(1): 45-51. (责任编委: 袁慧军) |