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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 224 - 231 (8page)
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Background: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in a large Korean family with NSHL showing a typical pattern of autosomal dominant (AD) inheritance. Methods: Exome sequencing was performed for five affected and three unaffected individuals in this family. Following identification of a candidate gene variant, segregation analysis and functional studies, including circular dichroism and biolayer interferometry experiments, were performed. Results: A novel USH1C heterozygous missense variant (c.667G>T;p.Gly223Cys) was shown to segregate with the NSHL phenotype in this family. This variant affects an amino acid residue located in the highly conserved carboxylate-binding loop of the harmonin PDZ2 domain and is predicted to disturb the interaction with cadherin-related 23 (cdh23). The affinity of the variant PDZ2 domain for a biotinylated synthetic peptide containing the PDZ-binding motif of cdh23 was approximately 16-fold lower than that of the wild-type PDZ2 domain and that this inaccessibility of the binding site was caused by a conformational change in the variant PDZ2 domain. Conclusions: A heterozygous variant of USH1C that interferes with the interaction between cdh23 and harmonin causes novel AD-NSHL.
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참고문헌 (17)
참고문헌 신청
Shearer AE / Hereditary hearing loss and deafness overview
Blaydon DC / 2003 / The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK / Clin Genet 63:303~307
Ahmed ZM / 2002 / Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC / Hum Genet 110:527~531
Ouyang XM / 2002 / Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness / Hum Genet 111:26~30
Khateb S / 2012 / Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss / PLoS One 7:e51566
Blaydon DC / 2003 / The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK / Clin Genet 63:303~307
Ahmed ZM / 2002 / Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC / Hum Genet 110:527~531
Ouyang XM / 2002 / Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness / Hum Genet 111:26~30
Khateb S / 2012 / Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss / PLoS One 7:e51566
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