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Advances in molecular biology and molecular genetic technologies have revealed extreme etiologic heterogeneity of genetic hearing loss. Genes known to contribute to deafness have been reported to be involved with a variety of function and structures in the cochlea of the inner ear. Genetic alteration in deafness genes manifests hearing loss either in syndromic or in nonsyndromic forms, albeit much more frequently in latter forms. Molecular genetic diagnosis in this nonsyndromic hearing loss is challenging in majority of cases. GJB2 is the most frequent etiology of severe to profound nonsyndromic hearing loss in most of the ethnic backgrounds. When no potentially pathogenic GJB2 mutation is detected, characteristic audiogram profiles and radiologic markers help us to select next candidate deafness genes. Mutations in SLC26A4 and POU3F4 causes enlarged vestibular aqueduct and incomplete partition type III anomaly, respectively. TECTA, TMPRSS3, WFS1, COCH, KCNQ4 and DIAPH1 give rise to a characteristic audiologic configuration, if mutated. This phenotype-driven candidate gene approach has been successful not infrequently. With the advent of next generation sequencing technologies, molecular genetic diagnosis of hearing impaired subjects even without any characteristic markers is being widely tried. Targeted resequencing of known deafness genes appears to be effective in as high as 50-60% in making molecular genetic diagnosis at least for multiplex families where there are two or more affected hearing impaired subjects. Whole exome sequencing has been successful in revealing molecular genetic etiology anecdotally. More sophisticated pipeline and platform for revealing pathogenicity of detected variants both genetically and biologically is necessary to incorporate the advent of cutting edge sequencing technologies to the big step toward a personalized rehabilitation for hearing impaired subjects.

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기사명 저자명 페이지 원문 목차
유소아 급성 중이염의 임상양상 및 원인균 분석 : 다기관 연구 박수경, 이민주, 이규호, 최형준, 김진환, 이준호, 이효정, 홍석민, 홍성광, 김형종 pp.15-21

내시경적 접근법으로 치유한 익돌관 신경초종 1예 홍현표, 윤성원, 박민준, 정수찬 pp.50-53

이하선에 발생한 거대 암육종 1예 정신철, 김병하, 도남용, 박준희 pp.38-41

지속적상기도양압술의 순응도에 영향을 미치는 인자들 김효열, 장민석 pp.7-14

Does Nasal Polyps Influence on the Location of Nasal Fontanelle? 정용수, 최지민, 신동혁, 김용운, 정경화, 조재훈, 홍석찬, 김진국 pp.27-31

이관 골부의 정맥 카테터 삽입수술을 통한 이관개방증의 치료 효과 유병재, 김효민, 진상균, 박시내 pp.54-60

전문 음성사용인들의 성대결절에 있어 성대 내 스테로이드 주입술 이후 음성치료의 유용성 이정엽, 이재혁, 최정임, 이상혁, 진성민 pp.32-37

급성 부비동염에 의해 발생한 측두와 농양 1예 조민혁, 김성열, 양석민, 김현준 pp.61-64

난청 분자유전진단의 현재 그리고 미래 오승하, 최병윤 pp.1-6

티타늄 메시로 재건하여 치료한 자발성 턱관절 탈출에 의한 이명 송지남, 심명주, 여상원, 박시내 pp.46-49

위축성 비염 환자에서 이차적으로 발생한 비강내 결절외 NK/T 세포 림프종 1예 오정현, 배경희, 안정현, 인승민 pp.42-45

이명환자에서 불안, 우울, D형 인격의 분석 최윤석, 나형균, 송시연, 김용대, 배창훈 pp.22-26

참고문헌 (31건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Song MH, Lee KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed) 2012;4:924-33. 미소장
2 Nonsyndromic hearing impairment: unparalleled heterogeneity. 네이버 미소장
3 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 네이버 미소장
4 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 네이버 미소장
5 Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. 네이버 미소장
6 The prevalence of connexin 26 ( GJB2) mutations in the Chinese population. 네이버 미소장
7 Connexin26 Mutations Associated With Nonsyndromic Hearing Loss 네이버 미소장
8 Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, et al. The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment. PLoS One 2012;7(5):e36621. 미소장
9 Kim SY, Park G, Han KH, Kim A, Koo JW, Chang SO, et al. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS One 2013;8(4):e61592. 미소장
10 del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005;42(7):588-94. 미소장
11 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non‐syndromic deafness: A novel founder mutation in Ashkenazi Jews 네이버 미소장
12 Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. 네이버 미소장
13 Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3 네이버 미소장
14 Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 네이버 미소장
15 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. 네이버 미소장
16 Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. 네이버 미소장
17 Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30(4):599-608. 미소장
18 SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 네이버 미소장
19 Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 네이버 미소장
20 Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. 네이버 미소장
21 A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy 네이버 미소장
22 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 네이버 미소장
23 Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse 네이버 미소장
24 Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations 네이버 미소장
25 Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. 네이버 미소장
26 Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations 네이버 미소장
27 Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA 네이버 미소장
28 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 네이버 미소장
29 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 네이버 미소장
30 Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, et al. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet 2010;86(3):378-88. 미소장
31 Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, et al. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 2010;87(1):90-4. 미소장

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