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A POU3F4 Mutation Causes nonsyndromic hearing loss in a Chinese X-linked Recessive Family

Chinese Medical Journal 2017年第1期130卷 88-92页

作者： Wan Du Ming-Kun Han Da-Yong Wang Bing Han Liang Zong Lan Lan Ju Yang Qi Shen Lin-Yi Xie Lan Yu Jing Guan Qiu-Ju Wang Department of Otolaryngology Head and Neck Surgery Institute of Otolaryngology Chinese People's Liberation Army General Hospital Beijing 100853 China

Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with bearing loss in this family. No mutation ofPOU3F4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

关键词： c.499C〉T nonsyndromic hearing loss POU3F4 X-linked

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Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China

Mutation analysis of common deafness-causing genes among 506...

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2019年浙江省检验医学学术大会

作者： Yanbao Xiang Shaohua Tang Xueqin Xu Chenyang Xu Huanzheng Li Wenzhou Central Hospital

Objectives: The frequency and spectrum of mutations in deafness-causing genes differs significantly according to the ethnic population and region under investigation. The molecular etiology of nonsyndromic hearing loss(NSHL) in Wenzhou, China, has not yet been systematically elucidated. To provide accurate genetic testing and counseling in this area, we investigated the molecular etiology of NSHL in a deaf population from ***: A total 506 unrelated patients with NSHL were enrolled in this study. Nine hotspot mutations in four major deafness genes were investigated by sequencing(Group I: 187 patients enrolled between 2011 and 2015) or allele-specific PCR-based universal array(Group II: 319 patients enrolled between 2016 and 2017). The investigated genes included GJB2(c.35 delG, c.17691 del16, c.235 delC, c.299-300 delAT), SLC26 A4(c.2168 A>G, c.919-2 A>G), mtDNA 12 SrRNA(m.1555 A>G, m.1494 C>T), and GJB3(c.538 C>T). Furthermore, whole coding region sequencing or improved multiplex ligation detection reaction(IMLDR) were performed for patients who carried mono-allelic variants of GJB2 and SLC26 A4,in order to detect other mutations among these patients. Results: GJB2 mutations were detected in 22.92%(116/506) of the entire cohort and SLC26 A4 mutations were found in 6.52%(33/506) of the cohort. GJB3 mutations were detected in 0.79%(4/506) of the cohort. The mutation rate of mitochondrial DNA 12 SrRNA in our patients was 17.40%(88/506), including 17.00%(86/506) with the m.1555 A>G mutation and 0.40%(2/506) with the m.1494 C>T mutation. The allelic frequency of the c.235 del C mutation was 14.62%(148/1012), which is significantly higher than that of c.109 G>A(33/1012, 3.26%), c.29900 delAT(13/1012, 1.28%), and c.17691 del16(6/1012, 0.59%). The most common pathogenic mutation of SLC26 A4 was the c.919-2 A>G mutation(37/1012, 3.66%), followed by c.2168 A>G(6/1012, 0.59%), and c.1229 C>T(4/1012, 0.40%). Moreover, five rare pathogenic variants of GJB2 and eight

关键词： nonsyndromic hearing loss GJB2 SLC26A4 GJB3 mtDNA 12SRNA

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Compound Heterozygous MYO7A Mutations in a Chinese Pedigree with nonsyndromic hearing loss

Compound Heterozygous MYO7A Mutations in a Chinese Pedigree ...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： CHEN Chao CHEN Dan-ni ZHENG Jing GONG Sha-sha ZHU Xu-fen Guan Min-xin Department of Genetics College of Life SciencesZhejiang University Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of medical Genetics.School of Life Sciences Wenzhou Medical University Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of medical Genetics School of Life SciencesWenzhou Medical University

MYO7A gene encodes an unconventional myosin,which is essential for well functioned hair cells of inner *** in MYO7A have been associated with nonsyndromic hearing loss Here we report clinical and genetic characterization of a Chinese pedigree carrying compound heterozygous ***7A is considered to be responsible for the WLT151 pedigree by exome capture sequencing and pathogenicity *** proband has less severe hearing loss in low frequency without defects in vestibular or retinal,though her parents have normal hearing After evaluation by PCR and sequencing,the proband is confirmed to carry a missense mutation c.l184G>A(***395His) and a nonsense mutation c.4117C>T(***1373Ter),the former of which is inherited from her father’s de novo mutation,and the latter of which is from her mother. These compound heterozygous mutations are in functional domains probably causing damaged *** analysis shows the two sites are highly conserved in 19 vertebrates,with absent allelic frequency in the ***,these data strongly indicate the WLT151 pedigree has autosomal recessive nonsyndromic deafness(DFNB2).

关键词： MYO7A gene nonsyndromic hearing loss compound heterozygous mutation

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Mutational Spectrum of MYO15A in nonsyndromic hearing loss Subjects from Zhejiang Province

Mutational Spectrum of MYO15A in Nonsyndromic Hearing Loss S...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： CHEN Dan-Ni CHEN Chao ZHENG Jing GONG Sha-Sha ZHU Xu-Fen Guan Min-xin Department of Genetics College of Life SciencesZhejiang University Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of medical Genetics School of Life SciencesWenzhou Medical University

Mutations in MYO15A(DFNB3) has been reported to be associated with nonsyndromic autosomal recessive hearing *** Myosinl5a protein is shown to be integral for actin organization in the hair cells of the *** regulates the elongation of stereocilia and the staircase formation of hair bundle,which are pivotal for normal auditory *** the present study,we used the exon capturing technology to sequence the MYO15A exons of 217 patients from Taizhou,Wenzhou and Ningbo Cities in Zhejiang *** analysis of MYO15A gene in these patients identified 73 variants,including 23 synonymous variants,41 missense mutations, 1 nonsense mutation,6 insertion/deletion mutations and 2 splicing site ***, those variants have been evaluated by phylogenetic analysis,structure-function relation and allelic frequency of these variants in the *** these,15 variants were considered to be putative deafness-associated mutations and they were present in forms of compound heterozygosity or homozygosity in the *** mutational spectrum of MYO15A was first drawn in subjects with nonsyndromic hearing loss in Zhejiang Province and may provide valuable clue for further study of molecular pathogenic mechanisms of MYO15A associated with hereditary hearing loss.

关键词： MYO15A nonsyndromic hearing loss mutational spectrum Zhejiang

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Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A〉G mutation

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Protein & Cell 2015年第11期6卷 844-848页

作者： Zhengbiao Ying Jing Zheng Zhaoyang Cai Li Liu Yu Dai Juan Yao Department of Otolaryngology Wenling People's Hospital Wenzhou Medical University Wenling 317500 China. Institute of Genetics School of Medicine Zhejiang University Hangzhou 310058 China. Department of Clinical Laboratory The Second Affiliated Hospital School of Medicine Zhejiang University Hangzhou 310009 China. Attardi Institute of Mitochondrial Biomedicine School of Laboratory Medicine and Life Sciences Wenzhou Medical University Wenzhou 325035 China. Department of Otolaryngology The First Affiliated Hospital Wenzhou Medical University Wenzhou 325000 China. Institute of Genetics School of Medicine Zhejiang University Hangzhou 310058 China. yechency@***.

Dear Editor, hearing loss is one of the major public health problems. The mitochondrial DNA mutations has been found to be associ- ated with both aminoglycoside-induced and nonsyndromic hearing loss （FischeI-Ghodsian, 1999; Guan, 2011）. The 1555A〉G mutation in mitochondrial small subunit ribosomal RNA （rRNA） gene contributes to nonsyndromic hearing loss and is prevalent in Asian and other populations （Guan, 2011）. This mutation was first identified in families with aminogly- coside-induced deafness, and the ototoxic susceptibility was attributed to enhanced binding affinity to aminoglycosides of 1555A〉G rRNA （Qian and Guan, 2009）. In the absence of aminoglycoside antibiotics, individuals with 1555A〉G mutation exhibit various clinical phenotype that ranges from severe congenital deafness, through moderate progressive hearing loss of late onset,

关键词： hearing loss Acute Mountain Sickness nonsyndromic hearing loss Bilateral hearing Impairment Eastern Asian Population

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