The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76:7.20.1-7.20.41

Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bonne-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22. 3. Am J Hum Genet 58:1254

CAS  PubMed  PubMed Central  Google Scholar 

Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KC, Mancl L (2023) Association of genetic diagnoses of childhood-onset hearing loss with cochlear implant outcomes. JAMA Otolaryngol Head Neck Surg 149:212

Article  PubMed  PubMed Central  Google Scholar 

Causey GD, Hood LJ, Hermanson CL, Bowling LS (1984) The Maryland CNC test: normative studies. Audiology 23:552–568

Article  CAS  PubMed  Google Scholar 

Chen Y-S, Cabrera E, Tucker BJ, Shin TJ, Moawad JV, Totten DJ, Booth KT, Nelson RF (2022) TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation. J Med Genet 59:1219–1226

Article  CAS  PubMed  Google Scholar 

Cremers C, van Rijn P, ter Haar B (1987) Autosomal recessive progressive high-frequency sensorineural deafness in childhood. Arch Otolaryngol Head Neck Surg 113:1319–1324

Article  CAS  PubMed  Google Scholar 

Du W, Ergin V, Loeb C, Huang M, Silver S, Armstrong AM, Huang Z, Gurumurthy C, Staecker H, Liu X (2023) Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8. bioRxiv: 2023.02. 25.530035.

Eppsteiner RW, Shearer AE, Hildebrand MS, DeLuca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE (2012) Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res 292:51–58

Article  PubMed  PubMed Central  Google Scholar 

Gao X, Huang S-S, Yuan Y-Y, Xu J-C, Gu P, Bai D, Kang D-Y, Han M-Y, Wang G-J, Zhang M-G (2017) Identification of TMPRSS3 as a significant contributor to autosomal recessive hearing loss in the Chinese population. Neural Plast 2017:3192090. https://doi.org/10.1155/2017/3192090

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C (2002) The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet 11:2829–2836

Article  CAS  PubMed  Google Scholar 

Ittisoponpisan S, Islam SA, Khanna T, Alhuzimi E, David A, Sternberg MJ (2019) Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated? J Mol Biol 431:2197–2212

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jo S, Kim T, Iyer VG, Im W (2008) CHARMM-GUI: a web-based graphical user interface for CHARMM. J Comput Chem 29:1859–1865

Article  CAS  PubMed  Google Scholar 

Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, Tunyasuvunakool K, Bates R, Žídek A, Potapenko A (2021) Highly accurate protein structure prediction with AlphaFold. Nature 596:583–589

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khanna T, Hanna G, Sternberg MJ, David A (2021) Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants. Hum Genet 140:805–812

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee J, Patel DS, Ståhle J, Park S-J, Kern NR, Kim S, Lee J, Cheng X, Valvano MA, Holst O (2018) CHARMM-GUI membrane builder for complex biological membrane simulations with glycolipids and lipoglycans. J Chem Theory Comput 15:775–786

Article  PubMed  Google Scholar 

Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee S-Y, Oh S-H (2023) Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss. Gene 865:147335

Article  CAS  PubMed  Google Scholar 

Molina L, Fasquelle L, Nouvian R, Salvetat N, Scott HS, Guipponi M, Molina F, Puel J-L, Delprat B (2013) Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Hum Mol Genet 22:1289–1299

Article  CAS  PubMed  Google Scholar 

Moon IS, Grant AR, Sagi V, Rehm HL, Stankovic KM (2021) TMPRSS3 gene variants with implications for auditory treatment and counseling. Front Genet 12:780874

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nilsson M, Soli SD, Sullivan JA (1994) Development of the hearing in noise test for the measurement of speech reception thresholds in quiet and in noise. J Acoust Soc Am 95:1085–1099

Article  CAS  PubMed  Google Scholar 

Nisenbaum E, Yan D, Shearer AE, de Joya EM, Thielhelm TP, Russell N, Staecker H, Chen Z-Y, Holt JR, Liu XZ (2023) Genotype-phenotype correlations in TMPRSS3 (DFNB10/DFNB8) with emphasis on natural history. Audiol Neuro-Otol 28:407–419

Article  CAS  Google Scholar 

Pei M, Colbert BM, Smeal MR, Blanton SH, Liu XZ (2022) Precision medicine shows promise to advance the care of individuals with hearing loss. Med Res Arch 10(11)

Pettersen EF, Goddard TD, Huang CC, Meng EC, Couch GS, Croll TI, Morris JH, Ferrin TE (2021) UCSF ChimeraX: structure visualization for researchers, educators, and developers. Protein Sci 30:70–82

Article  CAS  PubMed  Google Scholar 

Pires DE, Ascher DB, Blundell TL (2014) mCSM: predicting the effects of mutations in proteins using graph-based signatures. Bioinformatics 30:335–342

Article  CAS  PubMed  Google Scholar 

Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S (2001) Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 27:59–63

Article  CAS  PubMed  Google Scholar 

Shearer AE, Eppsteiner RW, Frees K, Tejani V, Sloan-Heggen CM, Brown C, Abbas P, Dunn C, Hansen MR, Gantz BJ (2017) Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res 348:138–142

Article  PubMed  PubMed Central  Google Scholar 

Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452–W457

Article  CAS  PubMed  PubMed Central  Google Scholar 

Spahr AJ, Dorman MF, Litvak LM, Van Wie S, Gifford RH, Loizou PC, Loiselle LM, Oakes T, Cook S (2012) Development and validation of the AzBio sentence lists. Ear Hear 33:112

Article  PubMed  PubMed Central  Google Scholar 

Tamati TN, Pisoni DB, Moberly AC (2022) Speech and language outcomes in adults and children with cochlear implants. Annu Rev Ling 8:299–319

Article  Google Scholar 

Tang P-C, Nie J, Lee J, Roth AA, Booth KT, Koehler KR, Hashino E, Nelson RF (2019) Defective Tmprss3-associated hair cell degeneration in inner ear organoids. Stem Cell Rep 13:147–162

Article  CAS  Google Scholar 

Taylor KR, DeLuca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL (2013) Audio gene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Hum Mutat 34:539–545

CAS  PubMed  Google Scholar 

Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH (2022) The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Hum Genet 141:853–863

Article  CAS  PubMed  Google Scholar 

Tropitzsch A, Knoblich N, Müller M, Biskup S, Löwenheim H, Holderried M, Rask-Andersen H (2018) Cochlear implant performance in patients with TMPRSS3 mutations. Laryngorhinootologie 97:10738

Google Scholar 

Tucker BJ, Chen Y-S, Shin TJ, Cabrera E, Booth KT, Nelson RF (2021) Insights into the pathobiology of TMPRSS3-related hearing loss and implications for cochlear implant patients with TMPRSS3 mutations

Van Camp GSR (2023) Hereditary hearing loss homepage. https://hereditaryhearingloss.org/. Accessed 3 March 2023

Varadi M, Anyango S, Deshpande M, Nair S, Natassia C, Yordanova G, Yuan D, Stroe O, Wood G, Laydon A (2022) AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. Nucleic Acids Res 50:D439–D444

Article  CAS  PubMed  Google Scholar 

Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Qasim Mehdi S, Gal A (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 5:165–168

Article  CAS  PubMed  Google Scholar 

Von Elm E, Altman DG, Egger M, Pocock SJ, Gøtzsche PC, Vandenbroucke JP (2007) The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Lancet 370:1453–1457

Article  Google Scholar 

Walls WD, Moteki H, Thomas TR, Nishio S-y, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT (2020) A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet 139:1315–1323

Article  CAS  PubMed  PubMed Central 

留言 (0)

沒有登入
gif