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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. X-linked hearing loss …
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...Four addition …
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H. Bazazzadegan N, et al. Am J Med Genet A. 2011 May;155A(5):1202-11. doi: 10.1002/ajmg.a.33209. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484990 Free PMC article. Review.
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL …
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic …
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. Deafness can be inherited in an autosomal …
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness h …
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...None of the genes associated with autosomal dominant nonsyndromic hearing loss accounts for a preponderance of cases, alt …
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...None of the gene …
Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.
Bindu LH, Reddy PP. Bindu LH, et al. Int J Audiol. 2008 Nov;47(11):702-7. doi: 10.1080/14992020802215862. Int J Audiol. 2008. PMID: 19031229 Review.
Aminoglycoside-induced and nonsyndromic deafness has been shown to have a genetic susceptibility and the pathogenic mitochondrial 12S rRNA A1555G mutation was identified as the primary factor underlying the hearing loss in many familial as well as in g …
Aminoglycoside-induced and nonsyndromic deafness has been shown to have a genetic susceptibility and the pathogenic mitochondr …