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https://www.readbyqxmd.com/read/29331002/genetics-of-human-hereditary-hearing-impairment
#1
Rahat Meena, Muhammad Ayub
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29320412/functional-testing-of-slc26a4-variants-clinical-and-molecular-analysis-of-a-cohort-with-enlarged-vestibular-aqueduct-from-austria
#2
Sebastian Roesch, Emanuele Bernardinelli, Charity Nofziger, Miklós Tóth, Wolfgang Patsch, Gerd Rasp, Markus Paulmichl, Silvia Dossena
The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4 and GJB2, coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants...
January 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29318123/genetic-linkage-analysis-of-dfnb4-dfnb28-dfnb93-loci-in-autosomal-recessive-non-syndromic-hearing-loss-evidence-for-digenic-inheritance-in-gjb2-and-gjb3-mutations
#3
Marzieh Naseri, Masoud Akbarzadehlaleh, Marjan Masoudi, Najmeh Ahangari, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Leila Shams, Azim Nejatizadeh
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity. We aimed to determine the contribution of three common DFNB loci (DFNB4, DFNB28, and DFNB93), and mutation analysis of Gap Junction Beta-2 gene (GJB2) and GJB3 genes in ARNSHL subjects in southern Iran. Methods: Thirty-six large ARNSHL pedigrees (167 individuals) with at least two affected subjects (72 patients) were included in this descriptive study from Hormozgan Province of Iran, during 2014 - 2015...
January 2018: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#4
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287849/a-novel-variant-in-the-cdh23-gene-is-associated-with-non-syndromic-hearing-loss-in-a-chinese-family
#5
Yuan Liang, Kangwei Wang, Qi Peng, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jiang Chang, Siping Li, Xiaomei Lu
OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss. METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29234782/newborn-screening-of-genetic-mutations-in-common-deafness-genes-with-bloodspot-based-gene-chip-array
#6
Xuehu He, Xiuzhong Li, Yaqi Guo, Yue Zhao, Hui Dong, Jie Dong, Li Zhong, Zhiyun Shi, Yuying Zhang, Mario Soliman, Chunhua Song, Zhijun Zhao
Purpose: This study screens for deafness gene mutations in newborns in the Northwest China population. Method: The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns. Results: We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mutations. In the Hui population, 4.58% of the newborns tested positive for mutations, whereas 4...
December 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29201956/traumatic-brain-injury-is-unlikely-precipitating-leigh-syndrome-due-to-the-gjb2-mutation-c-35delg
#7
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#8
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine, M Nizon, M Vincent, S Mercier, C Calais, G García-García, Z Azher, L Lambert, Y Perdomo-Trujillo, F Giuliano, M Claustres, M Koenig, M Mondain, A F Roux
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29152271/c-464a-g-variation-in-the-gjb2-gene-is-detected-in-a-han-chinese-family
#9
Gang-Hua Zhu, Hong-Ying Shu, Hai-Yan Zhou, Yong Chen, Fei Zhou, Bin Ni, Wanqin Xie
We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29148562/recurrence-of-reported-cdh23-mutations-causing-dfnb12-in-a-special-cohort-of-south-indian-hearing-impaired-assortative-mating-families-an-evaluation
#10
Paridhy Vanniya S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey, Murugesan Kalaimathi, Rajagopalan Ramakrishnan, Natarajan P Karthikeyen, Srisailapathy C R Srikumari
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29140768/public-health-burden-of-hearing-impairment-and-the-promise-of-genomics-and-environmental-research-a-case-study-in-ghana-africa
#11
Samuel Mawuli Adadey, Gordon Awandare, Goffrey Kwabla Amedofu, Ambroise Wonkam
Hearing impairment (HI) is one of the most disabling conditions of major global health burden that contributes adversely to the social and economic development of a country, if not managed properly. A proper assessment of the nationwide burden and etiology of HI is instrumental in the prevention, treatment, and management of the condition. This article sought to perform an expert review of HI in Ghana to determine the present knowledge of its burden and possible causes of the condition. A literature search was conducted in PubMed using the following keywords: "hearing loss" OR "hearing impairment" OR "deafness" AND "Ghana...
November 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29106882/gjb2-mutations-genotypic-and-phenotypic-correlation-in-a-cohort-of-690-hearing-impaired-patients-toward-a-new-mutation
#12
Jean-Christophe Leclère, Marie-Suzanne Le Gac, Cedric Le Maréchal, Claude Ferec, Rémi Marianowski
OBJECTIVES: To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with GJB2 mutations. DESIGN: Case series. SETTING: Collaborative study in referral centers, institutional practice. PATIENTS: A total of 690 hearing-impaired patients were genotypically and phenotypically described. The mutations of GJB2 and GJB6 were studied. Heterozygous patients were searched for another mutation by microsatellite approach...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106878/the-relationship-between-the-gjb3-c-538c-t-variant-and-hearing-phenotype-in-the-chinese-population
#13
Shasha Huang, Bangqing Huang, Guojian Wang, Dong Yang Kang, Xin Zhang, Xiaoxiao Meng, Pu Dai
BACKGROUND: Mutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C>T (p.R180*) variants caused high-frequency hearing loss. But after that, few reports have reported this mutation. This study investigated the relationship between the GJB3 c.538C>T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families. METHOD: The study enrolled 5700 patients with hearing loss and 4600 normal subjects...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29103018/single-nucleotide-polymorphism-rs2274084-of-gap-junction-protein-beta-2-gene-among-epstein-barr-virus-associated-tumors
#14
Hua Xiao, Wen Liu, Zhenzhen Zhao, Yan Zhang, Yingying Song, Bing Luo
BACKGROUND: Gap junction protein beta 2 gene (GJB2) encodes one of connexins- Connexin 26 (Cx26), which mainly expressed in epithelial cells. Cx26 is usually considered a channel to exchange information between cells, which plays a critical role in tumor cell proliferation. OBJECTIVE: We investigated GJB2 rs2274084 polymorphism in three types of tumors, including nasophoryngeal carcinoma (NPC), gastric cancer (GC) and lymphoma. METHODS: Proteinase K digestion and phenolchloroform purification and QIAamp DNA FFPE tissue kit was used for DNA extraction...
October 27, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/29072634/the-analysis-of-a-frequent-tmprss3-allele-containing-p-v116m-and-p-v291l-in-a-cis-configuration-among-deaf-koreans
#15
Ah Reum Kim, Juyong Chung, Nayoung K D Kim, Chung Lee, Woong-Yang Park, Doo-Yi Oh, Byung Yoon Choi
We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands manifesting early-onset postlingual deafness were sorted. Through targeted re-sequencing, we detected two families with a TMPRSS3 mutant allele containing p...
October 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29062245/research-of-genetic-bases-of-hereditary-non-syndromic-hearing-loss
#16
Aslı Subaşıoğlu, Duygu Duman, Aslı Sırmacı, Güney Bademci, Fehime Carkıt, Mehmet Akif Somdaş, Mustafa Erkan, Mustafa Tekin, Munis Dündar
AIM: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. MATERIAL AND METHODS: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29050102/-research-progress-on-the-etiology-of-delayed-onset-hearing-loss-in-children
#17
X Y Wang, L H Huang, Y T Du
Newborn hearing screening is an effective method for early detection of hearing loss, however, it is not able to detect delayed-onset hearing loss. By exploring the etiology of delayed-onset hearing loss in children, it can provide a clinical basis for early detection of delayed-onset hearing loss. Mutations in SLC26A4, mitochondrial, GJB2 and other genes, enlarged vestibular aqueduct, congenital cytomegalovirus infection, extracorporeal membrane oxygenation, and auditory neuropathy et al were more commonly reported risk factors...
October 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29048736/novel-recessive-pdzd7-biallelic-mutations-in-two-chinese-families-with-non-syndromic-hearing-loss
#18
Jing Guan, Hongyang Wang, Lan Lan, Li Wang, Ju Yang, Linyi Xie, Zifang Yin, Wenping Xiong, Lidong Zhao, Dayong Wang, Qiuju Wang
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with ARNSHL. The effect of PDZD7 on ARNSHL in other population has yet to be elucidated. Two Chinese ARNSHL families, each of which had two affected siblings, were included in this study. The families underwent target region capture and high-throughput sequencing to analyze the exonic, splice-site, and intronic sequences of 128 genes...
October 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29048421/recurrent-variants-in-otof-are-significant-contributors-to-prelingual-nonsydromic-hearing-loss-in-saudi-patients
#19
Naif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, Khalid A Al-Mazrou, Omnia Elrehim, Ahmad Abou Tayoun, Heidi L Rehm, Sami S Amr
PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence and GJB6-D13S1830 deletion screening, with negative cases being reflexed to a next-generation sequencing panel with 70, 71, or 87 hearing-loss genes...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#20
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli, Patricia Yoshie Nishimura, Layla Testa Galindo, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Among the familial cases (100/313), four were selected for exome sequencing. In one case, two novel heterozygous variants were found and were predicted to be pathogenic based on bioinformatics tools, that is, p.Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
October 17, 2017: Annals of Human Genetics
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