2014
DOI: 10.1371/journal.pone.0097040
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Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

Abstract: Postlingual progressive hearing loss, affecting primarily the high frequencies, is the clinical finding in most cases of autosomal dominant nonsyndromic hearing loss (ADNSHL). The molecular genetic etiology of ADNSHL is extremely heterogeneous. We applied whole-exome sequencing to reveal the genetic etiology of high-frequency hearing loss in a mid-sized Korean family without any prior linkage data. Whole-exome sequencing of four family members (two affected and two unaffected), together with our filtering stra… Show more

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Cited by 9 publications
(5 citation statements)
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“…The patient with known c.589G>A variant showed high-frequency HL, but the other patients (with the novel c.494C>T and c.605T>C variants) showed mid-frequency HL (Figure 2a). The c.589G>A variant was reported previously, but that phenotype was mid-frequency SNHL [32]. Thus, the characteristic phenotype of HL was not observed in the NIDO domain variants.…”
Section: Discussionmentioning
confidence: 80%
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“…The patient with known c.589G>A variant showed high-frequency HL, but the other patients (with the novel c.494C>T and c.605T>C variants) showed mid-frequency HL (Figure 2a). The c.589G>A variant was reported previously, but that phenotype was mid-frequency SNHL [32]. Thus, the characteristic phenotype of HL was not observed in the NIDO domain variants.…”
Section: Discussionmentioning
confidence: 80%
“…In previous studies, only three mutations within the NIDO domain, c.632T>C (p.Phe211Ser), c.589G>A (p.Asp197Asn), and c.710C>T (p.Thr237Ile), were reported in ADSNHL patients [32]. Furthermore, those cases showed mid- or high-frequency HL (Figure 2b) [32]. In our study, three variants, c.494C>T, c.589G>A, and c.605T>C, were identified in one family each, two of them novel.…”
Section: Discussionmentioning
confidence: 99%
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“…Thus, as expected, Sporadic Case_8, affected by autosomal recessive NSHL, carried a splicing and a non-sense variant, and displayed a moderately severe to severe hearing phenotype (Asgharzade et al, 2017). As regards dominant families, the phenotype of the patients was much more variable and not always reflecting data of previous studies leading to new genotype-phenotype links to be further investigated (Choi et al, 2014).…”
Section: Discussionmentioning
confidence: 88%
“…TECTA includes 23 exons and is located on chromosome 11q22-24 Legan et al, 1997;Verhoeven et al, 1997Verhoeven et al, , 1998]. Several mutations have been detected in humans [Alasti et al, 2008;Alloisio et al, 1999;Balciuniene et al, 1999;Choi et al, 2014;Collin et al, 2008;de Heer et al, 2009;Hildebrand et al, 2011;Iwasaki et al, 2002;Meyer et al, 2007a, b;Moreno-Pelayo et al, 2001;Mustapha et al, 1999;Naz et al, 2003;Pfister et al, 2004;Plantinga et al, 2006;Verhoeven et al, 1998]. …”
Section: Introductionmentioning
confidence: 99%