Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354:2151–64.

Article  CAS  PubMed  Google Scholar 

Yamasoba T, Lin FR, Someya S, Kashio A, Sakamoto T, Kondo K. Current concepts in age-related hearing loss: epidemiology and mechanistic pathways. Hear Res. 2013;303:30–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gettelfinger JD, Dahl JP. Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 2018;7:001–8.

Article  Google Scholar 

Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res/Rev Mutat Res. 2009;681:189–96.

Article  CAS  Google Scholar 

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, et al. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010;12:512–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brodie KD, Moore AT, Slavotinek AM, Meyer AK, Nadaraja GS, Conrad DE, et al. Genetic testing leading to early identification of childhood ocular manifestations of usher syndrome. Laryngoscope. 2021;131:E2053–E9.

Article  CAS  PubMed  Google Scholar 

Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012;91:597–607.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krumm N, Sudmant PH, Ko A, O’Roak BJ, Malig M, Coe BP, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22:1525–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huang J, Liang X, Xuan Y, Geng C, Li Y, Lu H, et al. A reference human genome dataset of the BGISEQ-500 sequencer. Gigascience 2017;6:gix024.

Article  Google Scholar 

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, et al. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. Hum Genet. 2018;137:479–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39:1593–613.

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–23.

Article  PubMed  PubMed Central  Google Scholar 

Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Hum Mutat. 2020;41:1734–7.

Article  PubMed  PubMed Central  Google Scholar 

Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 2003;31:3568–71.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang Y. I-TASSER server for protein 3D structure prediction. BMC Bioinform. 2008;9:1–8.

Article  Google Scholar 

Kelley LA, Mezulis S, Yates CM, Wass MN, Sternberg MJ. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc. 2015;10:845–58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Naz S, Imtiaz A, Mujtaba G, Maqsood A, Bashir R, Bukhari I, et al. Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet. 2017;91:589–98.

Article  CAS  PubMed  Google Scholar 

Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet. 2015;23:1207–15.

Article  CAS  PubMed  Google Scholar 

Richard EM, Santos‐Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019;40:53–72.

Article  CAS  PubMed  Google Scholar 

Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, et al. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med. 2016;18:364–71.

Article  CAS  PubMed  Google Scholar 

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997;6:2173–7.

Article  CAS  PubMed  Google Scholar 

de la Luz Arenas-Sordo M, Menendez I, Hernández-Zamora E, Sirmaci A, Gutiérrez-Tinajero D, McGetrick M, et al. Unique spectrum of GJB2 mutations in Mexico. Int J Pediatr Otorhinolaryngol. 2012;76:1678–80.

Article  PubMed  Google Scholar 

Batissoco AC, Abreu-Silva RS, Braga MCC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, et al. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear. 2009;30:1–7.

Article  PubMed  Google Scholar 

Bouzaher MH, Worden CP, Jeyakumar A. Systematic review of pathogenic GJB2 variants in the Latino population. Otol Neurotol. 2020;41:e182–e91.

Article  PubMed  Google Scholar 

Grangeiro CHP, Picanço-Albuquerque CG, dos Anjos TO, De Molfetta GA, Silva WA. Ferraz VEdF. Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort. BMC Res Notes. 2018;11:1–7.

Google Scholar 

Manzoli GN, Bademci G, Acosta AX, Félix TM, Cengiz FB, Foster J, et al. Targeted resequencing of deafness genes reveals a founder MYO15A variant in northeastern Brazil. Ann Hum Genet. 2016;80:327–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Demain LA, Urquhart JE, O’Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, et al. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet. 2017;91:302–12.

Article  CAS  PubMed  Google Scholar 

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, et al. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet Part A. 2011;155:1668–72.

Article  CAS  Google Scholar 

Kjellström U, Martell S, Brobeck C, Andréasson S. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. Ophthalmic Genet. 2021;42:161–9.

Article  PubMed  Google Scholar 

Nixon TR, Alexander P, Richards A, McNinch A, Bearcroft PW, Cobben J, et al. Homozygous type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—expanding the phenotype. Am J Med Genet Part A. 2019;179:1498–506.

CAS  PubMed  Google Scholar 

Hatch EP, Noyes CA, Wang X, Wright TJ, Mansour SL. Fgf3 is required for dorsal patterning and morphogenesis of the inner ear epithelium. 2007.

Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, et al. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010;120:359–64.

Article  CAS  PubMed  Google Scholar 

Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, et al. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 2011;12:1–11.

Article  Google Scholar 

Tekin M, Hişmi BÖ, Fitoz S, Özdağ H, Cengiz FB, Sırmacı A, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007;80:338–44.

Article  CAS  PubMed  Google Scholar 

Tekin M, Öztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz F, Sennaroğlu L, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet. 2008;73:554–65.

Article  CAS  PubMed  Google Scholar 

Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, et al. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genom. 2018;11:1–17.

Article  Google Scholar 

Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, et al. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Sci Rep. 2017;7:1–10.

Article  CAS  Google Scholar 

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, et al. Benefits of exome sequencing in children with suspected isolated hearing loss. Genes 2021;12:1277.

Article  PubMed  PubMed Central  Google Scholar 

Shearer AE, Smith RJ. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol–Head

留言 (0)

沒有登入
gif