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Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X. Nisenbaum E, et al. Audiol Neurootol. 2023;28(6):407-419. doi: 10.1159/000528766. Epub 2023 Jun 16. Audiol Neurootol. 2023. PMID: 37331337 Free PMC article. Review.
BACKGROUND: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is characterized by phenotypic heterogeneity, ranging from mild to profound hearing …
BACKGROUND: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing …
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
Mutations described thus far in PRPS1 are all missense mutations that result in PRS-I superactivity or in variable levels of decreased activity, resulting in X-linked Charcot-Marie-Tooth disease-5 (CMTX5), Arts syndrome, and X-linked nonsyndromic sensorineural deafness (DF …
Mutations described thus far in PRPS1 are all missense mutations that result in PRS-I superactivity or in variable levels of decreased activ …
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C. Galbis-Martínez L, et al. Acta Ophthalmol. 2021 Dec;99(8):922-930. doi: 10.1111/aos.14795. Epub 2021 Feb 11. Acta Ophthalmol. 2021. PMID: 33576163 Free PMC article.
RESULTS: Most patients displayed a typical USH1 phenotype, that is, prelingual severe-profound sensorineural hearing loss, prepubertal retinitis pigmentosa (RP) and vestibular dysfunction. No statistically significant differences were observed for the variabl …
RESULTS: Most patients displayed a typical USH1 phenotype, that is, prelingual severe-profound sensorineural hearing loss …
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Fu Y, Huang S, Gao X, Han M, Wang G, Kang D, Yuan Y, Dai P. Fu Y, et al. BMC Med Genomics. 2022 Mar 26;15(1):71. doi: 10.1186/s12920-022-01201-3. BMC Med Genomics. 2022. PMID: 35346193 Free PMC article.
BACKGROUND: Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype-phenotype correlation of MYO15A variants in a cohort of Chinese …
BACKGROUND: Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing …
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Rim JH, Noh B, Koh YI, Joo SY, Oh KS, Kim K, Kim JA, Kim DH, Kim HY, Yoo JE, Lee ST, Bok JW, Lee MG, Jung J, Choi JY, Gee HY. Rim JH, et al. Hum Genet. 2022 Apr;141(3-4):915-927. doi: 10.1007/s00439-021-02367-z. Epub 2021 Sep 14. Hum Genet. 2022. PMID: 34519870 Free PMC article.
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. ...
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. ...
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.
Huang A, Yuan Y, Liu Y, Zhu Q, Dai P. Huang A, et al. J Transl Med. 2015 May 12;13:154. doi: 10.1186/s12967-015-0483-3. J Transl Med. 2015. PMID: 25963406 Free PMC article.
Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. ...Using NGS techniques to establish a database of common mutations in patients with hearing loss and further data accu …
Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 …
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.
Kitajiri S, Makishima T, Friedman TB, Griffith AJ. Kitajiri S, et al. Clin Genet. 2007 Feb;71(2):148-52. doi: 10.1111/j.1399-0004.2007.00739.x. Clin Genet. 2007. PMID: 17250663
We ascertained a North American Caucasian family (LMG248) segregating autosomal dominant, non-syndromic, post-lingual, progressive sensorineural hearing loss. The hearing loss begins in the second decade of life and initially affects high freque …
We ascertained a North American Caucasian family (LMG248) segregating autosomal dominant, non-syndromic, post-lingual, progressive sensor …