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https://www.readbyqxmd.com/read/28777850/-analysis-of-clinical-phenotypes-and-gjb2-gene-mutations-in-families-affected-with-hearing-loss-from-southern-zhejiang
#1
Chenyang Xu, Yanbao Xiang, Chong Chen, Xiaoling Lin, Huanzheng Li, Jinfang Lu, Lin Hu, Xueqin Xu, Shaohua Tang
OBJECTIVE: To analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families. METHODS: Microarray was employed to detect c.35delG, c.176del16, c.235delC and c.299-300delAT mutations of the GJB2 gene among 228 patients. For those carrying a single heterozygous mutation, the whole coding region of the GJB2 gene was analyzed by Sanger sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#2
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28724843/the-complex-structure-of-the-mouse-placental-labyrinth-revealed-by-double-immunofluorescence-labeling-of-slc2a1-and-gjb2
#3
Chaw Kyi-Tha-Thu, Toshihiro Takizawa
No abstract text is available yet for this article.
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#4
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28704896/long-term-speech-perception-outcomes-of-cochlear-implantation-in-gap-junction-protein-beta-2-related-hearing-loss
#5
Sung Hee Kim, Rajendra Nepali, Myung Hoon Yoo, Kwang-Sun Lee, Jong Woo Chung
BACKGROUND AND OBJECTIVES: The mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was to evaluate the speech perception outcome after cochlear implantation according to the presence of a GJB2 mutation. SUBJECTS AND METHODS: During the period from March 2004 to February 2005, 38 patients underwent cochlear implantation at Asan Medical Center. Genetic factors and speech perception were evaluated in all subjects, and the patients were grouped according to the presence of a GJB2 mutation...
July 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28687817/etiologic-and-audiologic-characteristics-of-patients-with-pediatric-onset-unilateral-and-asymmetric-sensorineural-hearing-loss
#6
Pei-Hsuan Lin, Chuan-Jen Hsu, Yi-Hsin Lin, Yin-Hung Lin, Hui-Yu Lee, Chen-Chi Wu, Tien-Chen Liu
Importance: Pediatric-onset unilateral and asymmetric sensorineural hearing loss (SNHL) is a common condition, but in most patients, the cause remains unclear; thus, determination of the hearing outlook is difficult. Objective: To analyze the etiologic and audiologic characteristics of pediatric-onset unilateral and asymmetric SNHL. Design, Setting, and Participants: In this retrospective cohort study performed from January 1, 2008, through December 31, 2016, patients at a tertiary referral center who were diagnosed with pediatric-onset unilateral or asymmetric SNHL were divided into 3 groups according to their hearing levels: unilateral hearing loss with scaled-out levels (UHL-SO), unilateral hearing loss with residual hearing (UHL-RH), and asymmetric hearing loss (AHL)...
July 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28651654/concomitant-imaging-and-genetic-findings-in-children-with-unilateral-sensorineural-hearing-loss
#7
M Gruber, C Brown, M Mahadevan, M Neeff
OBJECTIVE: To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss. METHODS: A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution. RESULTS: Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children)...
June 27, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28642064/the-genetic-basis-of-deafness-in-populations-of-african-descent
#8
REVIEW
Jason R Rudman, Rosemary I Kabahuma, Sara E Bressler, Yong Feng, Susan H Blanton, Denise Yan, Xue-Zhong Liu
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations...
May 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28640090/efficiency-of-microarray-and-snpscan-for-the-detection-of-hearing-loss-gene-in-71-cases-with-nonsyndromic-hearing-loss
#9
COMPARATIVE STUDY
Rui Han, Linge Li, Ling Duan, Yan Xia, Pilidong Kuyaxi, Juan Zhao, Qi Zhao, Hua Zhang, Yu Chen
We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyghur minorities and 46 Han Chinese were included in this study. The type of mutations in GJB2, SLC26A4, and 12S rRNA genes were detected using microarray and SNPscan, respectively...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28604950/-mutation-analysis-and-prenatal-diagnosis-for-12-families-affected-with-hereditary-hearing-loss-and-enlarged-vestibular-aqueduct
#10
Yanbao Xiang, Huanzheng Li, Xueqin Xu, Chenyang Xu, Chong Chen, Xiaoling Lin, Shaohua Tang
OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss and enlarged vestibular aqueduct from southern Zhejiang province. METHODS: Clinical data and peripheral venous blood samples of 38 members from the 12 families were obtained. Mutations of 4 genes, namely SLC26A4, GJB2, c.538C to T and c.547G to A of GJB3, m.1555A to G and m.1494C to T of 12S rRNA, were detected by PCR and Sanger sequencing. Maternal contamination was excluded by application of STR detection during prenatal diagnosis...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28603488/hypothesis-of-k-recycling-defect-is-not-a-primary-deafness-mechanism-for-cx26-gjb2-deficiency
#11
REVIEW
Hong-Bo Zhao
K(+)-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2) mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K(+) ions after hair cell excitation, causing accumulation of K(+)-ions in the extracellular space around hair cells producing K(+)-toxicity, which eventually induces hair cell degeneration and hearing loss...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28583500/mutation-analysis-of-common-gjb2-scl26a4-and-12s-rrna-genes-among-380-deafness-patients-in-northern-china
#12
Jing Pan, Ping Xu, Weibo Tang, Zhongtao Cui, Miao Feng, Chunying Wang
OBJECTIVES: The molecular etiology of nonsyndromic deafness in Chinese population has not been investigated systematically, our study is aim to investigate the molecular etiology of nonsyndromic deafness patients from Northern China (Heilongjiang province), in order to provide genetic test and counseling to families. METHODS: 380 unrelated patients with hearing loss who attended to the Department of Otolaryngology, The Fourth Affiliated Hospital of Harbin Medical University were enrolled to our study...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28552523/progressive-age-dependence-and-frequency-difference-in-the-effect-of-gap-junctions-on-active-cochlear-amplification-and-hearing
#13
Liang Zong, Jin Chen, Yan Zhu, Hong-Bo Zhao
Mutations of Connexin 26 (Cx26, GJB2), which is a predominant gap junction isoform in the cochlea, can induce high incidence of nonsyndromic hearing loss. We previously found that targeted-deletion of Cx26 in supporting Deiters cells and outer pillar cells in the cochlea can influence outer hair cell (OHC) electromotility and reduce active cochlear amplification leading to hearing loss, even though there are no gap junction connexin expressions in the auditory sensory hair cells. Here, we further report that hearing loss and the reduction of active amplification in the Cx26 targeted-deletion mice are progressive and different at high and low frequency regions, first occurring in the high frequency region and then progressively extending to the middle and low frequency regions with mouse age increased...
July 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#14
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28513246/molecular-composition-and-distribution-of-gap-junctions-in-the-sensory-epithelium-of-the-human-cochlea-a-super-resolution-structured-illumination-microscopy-sr-sim-study
#15
Wei Liu, Hao Li, Fredrik Edin, Johan Brännström, Rudolf Glueckert, Annelies Schrott-Fischer, Matyas Molnar, Dirk Pacholsky, Kristian Pfaller, Helge Rask-Andersen
BACKGROUND: Mutations in the GJB2 gene, which encodes the Connexin26 (Cx26) protein, are the most common cause of childhood hearing loss in American and European populations. The cochlea contains a gap junction (GJ) network in the sensory epithelium and two connective tissue networks in the lateral wall and spiral limbus. The syncytia contain the GJ proteins beta 2 (GJB2/Cx26) and beta 6 (GJB6/Cx30). Our knowledge of their expression in humans is insufficient due to the limited availability of tissue...
May 17, 2017: Upsala Journal of Medical Sciences
https://www.readbyqxmd.com/read/28505178/a-reverse-dot-blot-assay-for-the-screening-of-twenty-mutations-in-four-genes-associated-with-nshl-in-a-chinese-population
#16
Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu
BACKGROUND: Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS: We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28501645/targeted-sequencing-identifies-novel-variants-involved-in-autosomal-recessive-hereditary-hearing-loss-in-qatari-families
#17
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto, Khalid Abdulhadi
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
May 4, 2017: Mutation Research
https://www.readbyqxmd.com/read/28498079/outcomes-of-cochlear-implantation-for-the-patients-with-specific-genetic-etiologies-a-systematic-literature-review
#18
Shin-Ya Nishio, Shin-Ichi Usami
CONCLUSION: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired. BACKGROUND: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss...
July 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28489599/association-between-the-p-v37i-variant-of-gjb2-and-hearing-loss-a-pedigree-and-meta-analysis
#19
REVIEW
Na Shen, Jing Peng, Xiong Wang, Yaowu Zhu, Weiyong Liu, Aiguo Liu, Yanjun Lu
Pathogenic variants in the gap junction protein beta-2 (GJB2) gene are the most common cause of hearing loss. Of these, the p.V37I variant of GJB2 has a high allele frequency (up to 10%) in East Asians. Characterization of the phenotypic spectrum associated with p.V37I, as well as the role of this variant in the onset of hearing loss could have a remarkable effect on future diagnostic strategies. Here, we performed a pedigree analysis of unrelated families exhibiting various hearing phenotypes, and then conducted a meta-analysis to comprehensively assess the association between the p...
July 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28483220/an-update-of-common-autosomal-recessive-non-syndromic-hearing-loss-genes-in-iranian-population
#20
REVIEW
Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Fatemeh Zarei, Mina Farbodnia, Sima Mansoori Derakhshan
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lower frequency...
June 2017: International Journal of Pediatric Otorhinolaryngology
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