1刘亚兰,汪俊程,邓宇元,等.荧光PCR法在非综合征型遗传性耳聋基因诊断中的应用研究[J].中国耳鼻咽喉颅底外科杂志,2016,22:345.

2 Yan D,Tekin D,Bademci G,et al.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents[J].Hum Genet,2016,135:953.

3 Atik T,Onay H,Aykut A,et al.Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss[J].PLoS One,2015,10:e0142154.

4 Abreu Alves FR,Quintanilha Ribeiro Fde A.Diagnosis routine and approach in genetic sensorineural hearing loss[J].Braz J Otorhinolaryngol,2007,73:412.

5 王秋菊,袁永一.常染色体隐性遗传性耳聋[J].听力学及言语疾病杂志,2016,24:421.

6 Botstein D,Risch N.Discovering genotypes underlying human phenotypes:past successes for mendelian disease,future approaches for complex disease[J].Nat Genet,2003,33(Suppl):228.

7 Mburu P,Mustapha M,Varela A,et al.Defects in whirlin,a PDZ domain molecule involved in stereocilia elongation,cause deafness in the whirler mouse and families with DFNB31[J].Nat Genet,2003,34:421.

8 Zwaenepoel I,Mustapha M,Leibovici M,et al.Otoancorin,an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels,is defective in autosomal recessive deafness DFNB22[J].Proc Natl Acad Sci USA,2002,99:6240.

9 Liu X,Han D,Li J,et al.Loss-of-function mutations in the PRPS1gene cause a type of nonsyndromic X-linked sensorineural deafness,DFN2[J].Am J Hum Genet,2010,86:65.

10 von Ameln S,Wang G,Boulouiz R,et al.A mutation in PNPT1,encoding mitochondrial-RNA-import protein PNPase,causes hereditary hearing loss[J].Am J Hum Genet,2012,91:919.

11 Kurima K,Peters LM,Yang Y,et al.Dominant and recessive deafness caused by mutations of a novel gene,TMC1,required for cochlear hair-cell function[J].Nat Genet,2002,30:277.

12 Naz S,Griffith AJ,Riazuddin S,et al.Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction[J].J Med Genet,2004,41:591.

13 Wang H,Wang X,He C,et al.Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4Bin a Chinese family[J].J Hum Genet,2015,60:119.

14 Chen DY,Liu XF.A dominant variant in DMXL2is linked to nonsyndromic hearing loss[J].Genet Med,2017,19:553.

15 Rodriguez-Paris J,Pique L,Colen T,et al.Genotyping with a 198mutation arrayed primer extension array for hereditary hearing loss:assessment of its diagnostic value for medical practice[J].PLoS One,2010,5:e11804.

16 Hilgert N,Smith RJ,Van Camp G.Forty-six genes causing nonsyndromic hearing impairment:which ones should be analyzed in DNA diagnostics[J].Mutat Res,2009,681:189.

17 Linden Phillips L,Bitner-Glindzicz M,Lench N,et al.The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss[J].Int J Audiol,2013,52:124.

18 Yan D,Xiang G,Chai X,et al.Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach[J].PLoS One,2017,12:e0169219.

19 Wu H,Feng Y,Jiang L,et al.Application of a new genetic deafness microarray for detecting mutations in the deaf in China[J].PLoS One,2016,11:e0151909.

20 Shearer AE,Smith RJ.Genetics:advances in genetic testing for deafness[J].Curr Opin Pediatr,2012,24:679.

21 Liu L,Li Y,Li S,et al.Comparison of next-generation sequencing systems[J].J Biomed Biotechnol,2012,2012:251364.

22 Johansen Taber KA,Dickinson BD,Wilson M.The promise and challenges of next-generation genome sequencing for clinical care[J].JAMA Intern Med,2014,174:275.

23 Liming BJ,Carter J,Cheng A,et al.International Pediatric Otolaryngology Group(IPOG)consensus recommendations:hearing loss in the pediatric patient[J].Int J Pediatr Otorhinolaryngol,2016,90:251.

24 Alford RL,Arnos KS,Fox M,et al.American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss[J].Genet Med,2014,16:347.

25 Yan D,Zhu Y,Walsh T,et al.Mutation of the ATP-gated P2X(2)receptor leads to progressive hearing loss and increased susceptibility to noise[J].Proc Natl Acad Sci USA,2013,110:2228.

26 Rehman AU,Morell RJ,Belyantseva IA,et al.Targeted capture and next-generation sequencing identifies C9orf75,encoding taperin,as the mutated gene in nonsyndromic deafness DFNB79[J].Am J Hum Genet,2010,86:378.

27 Schraders M,Haas SA,Weegerink NJ,et al.Next-generation sequencing identifies mutations of SMPX,which encodes the small muscle protein,X-linked,as a cause of progressive hearing impairment[J].Am J Hum Genet,2011,88:628.

28 Imtiaz A,Kohrman DC,Naz S.A frameshift mutation in GRXCR2causes recessively inherited hearing loss[J].Hum Mutat,2014,35:618.

29 Seco CZ,Oonk AM,Dominguez-Ruiz M,et al.Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5[J].Eur J Hum Genet,2015,23:189.

30 Shu HR,Bi H,Pan YC,et al.Targeted exome sequencing reveals novel USH2Amutations in Chinese patients with simplex Usher syndrome[J].BMC Med Genet,2015,16:83.

31 Fedick AM,Jalas C,Swaroop A,et al.Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population[J].Appl Clin Genet,2016,9:141.

32 Shearer AE,DeLuca AP,Hildebrand MS,et al.Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing[J].Proc Natl Acad Sci USA,2010,107:21104.

33 Lebeko K,Sloan-Heggen CM,Noubiap JJ,et al.Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families[J].Clin Genet,2016,90:288.

34 Liu Y,Wang L,Feng Y,et al.A new genetic diagnostic for enlarged vestibular aqueduct based on next-generation sequencing[J].PLoS One,2016,11:e0168508.

35 Tekin D,Yan D,Bademci G,et al.A next-generation sequencing gene panel(Miami OtoGenes)for comprehensive analysis of deafness genes[J].Hear Res,2016,333:179.

36 Vona B,Lechno S,Hofrichter MA,et al.Confirmation of PDZD7as a nonsyndromic hearing loss gene[J].Ear Hear,2016,37:e238.

37 Shafique S,Siddiqi S,Schraders M,et al.Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families[J].PLoS One,2014,9:e100146.

38 Ouyang XM,Yan D,Yuan HJ,et al.The genetic bases for non-syndromic hearing loss among Chinese[J].J Hum Genet,2009,54:131.

39 Rudman JR,Kabahuma RI,Bressler SE,et al.The genetic basis of deafness in populations of African descent[J].J Genet Genomics,2017,44:285.

40 Ma Z,Xia W,Liu F,et al.SLC44A4mutation causes autosomal dominant hereditary postlingual non-syndromic midfrequency hearing loss[J].Hum Mol Genet,2017,26:383.

41 Xing G,Yao J,Liu C,et al.GPRASP2,a novel causative gene mutated in an X-linked recessive syndromic hearing loss[J].J Med Genet,2017,54:426.

42 Chow YP,Abdul Murad NA,Mohd Rani Z,et al.Exome sequencing identifies SLC26A4,GJB2,SCARB2and DUOX2mutations in 2siblings with Pendred syndrome in a Malaysian family[J].Orphanet J Rare Dis,2017,12:40.

43 Walsh T,Shahin H,Elkan-Miller T,et al.Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2as the cause of nonsyndromic hearing loss DFNB82[J].Am J Hum Genet,2010,87:90.

44 Yuan Y,Zhang J,Chang Q,et al.De novo mutation in ATP6V1B2impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome[J].Cell Res,2014,24:1370.

45 Cai XZ,Li Y,Xia L,et al.Exome sequencing identifies POU4F3as the causative gene for a large Chinese family with non-syndromic hearing loss[J].J Hum Genet,2017,62:317.

46 Niu Z,Feng Y,Mei L,et al.A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family[J].PLoS One,2017,12:e0178384.

47 Friedman TB,Liang Y,Weber JL,et al.A gene for congenital,recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17[J].Nat Genet,1995,9:86.

48 Schraders M,Ruiz-Palmero L,Kalay E,et al.Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment[J].Am J Hum Genet,2012,91:883.

49 Delmaghani S,Aghaie A,Bouyacoub Y,et al.Mutations in CDC14A,encoding aprotein phosphatase involved in hair cell ciliogenesis,cause autosomal-recessive severe to profound deafness[J].Am J Hum Genet,2016,98:1266.

50 Yariz KO,Duman D,Zazo Seco C,et al.Mutations in OTOGL,encoding the inner ear protein otogelin-like,cause moderate sensorineural hearing loss[J].Am J Hum Genet,2012,91:872.

51 Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:ajoint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J].J Mol Diag N,2015,17:405.

52 Sboner A,Mu XJ,Greenbaum D,et al.The real cost of sequencing:higher than you think[J].Genome Biol,2011,12:125.

53 Kelly BJ,Fitch JR,Hu Y,et al.Churchill:an ultra-fast,deterministic,highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics[J].Genome Biol,2015,16:6.

54 Jiang Y,Oldridge DA,Diskin SJ,et al.CODEX:a normalization and copy number variation detection method for whole exome sequencing[J].Nucleic Acids Res,2015,43:e39.

55 Shearer AE,Kolbe DL,Azaiez H,et al.Copy number variants are a common cause of non-syndromic hearing loss[J].Genome Med,2014,6:37.