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Mo Chen, Qin Wang, Gang-Hua Zhu, Peng Hu, Yuan Zhou, Tian Wang, Ruo-Sha Lai, Zi-An Xiao, Ding-Hua Xie
The TPRN gene encodes taperin, which is prominently present at the taper region of hair cell stereocilia. Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). To investigate the role of taperin in pathogenesis of hearing loss, we generated TPRN knockout mice using TALEN technique. Sanger sequencing confirmed an 11 bp deletion at nucleotide 177-187 in exon 1 of TPRN, which results in a truncated form of taperin protein. Heterozygous TPRN(+/-) mice showed apparently normal auditory phenotypes to their wide-type (WT) littermates...
October 28, 2016: Biochemical and Biophysical Research Communications
Marjan Masoudi, Najmeh Ahangari, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Azim Nejatizadeh
BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. So far, more than seventy various DFNB loci have been mapped for ARNSHL by linkage analysis. The contribution of three common DFNB loci including DFNB3, DFNB9, DFNB21 and gap junction beta-2 (GJB2) gene mutations in ARNSHL was investigated in south of Iran for the first time. METHODS: In this descriptive study, we investigated sixteen large families with at least two affected individuals...
May 2016: Iranian Journal of Public Health
Simona Marková, Dana Šafka Brožková, Anna Mészárosová, Jana Neupauerová, Daniel Groh, Gabriela Křečková, Petra Laššuthová, Pavel Seeman
OBJECTIVES: To evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. PATIENTS AND METHODS: Unrelated Czech patients, adults and children, diagnosed with pre-lingual hereditary hearing loss with at least one similarly affected deaf sibling and with previously excluded mutations in the GJB2 gene were investigated by Sanger sequencing of the selected eight small NSHL-AR associated genes (CABP2 - 51 patients, CIB2 - 45 patients, PJVK/DFNB59 - 53 patients, GJB3 - 46 patients, ILDR1 - 48 patients, LHFPL5 - 66 patients, LRTOMT - 60 patients, TMIE - 64 patients)...
July 2016: International Journal of Pediatric Otorhinolaryngology
Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, Hala El Hachmi, Crystel Bonnet, Zied Riahi, Sebastien Chardenoux, Isabelle Perfettini, Jean-Pierre Hardelin, Ahmed Houmeida, Philippe Herbomel, Christine Petit
By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c...
June 2, 2016: American Journal of Human Genetics
Oguz Kadir Egilmez, M Tayyar Kalcioglu
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN)...
2016: Scientifica
Pranav Dinesh Mathur, Junhuang Zou, Tihua Zheng, Ali Almishaal, Yong Wang, Qian Chen, Le Wang, Deepti Vashist, Steve Brown, Albert Park, Jun Yang
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in nonsyndromic recessive deafness (DFNB). The mechanism underlying this disease variation of USH genes is unclear. Here, we addressed this issue by investigating the DFNB31 gene, whose mutations cause USH2D or DFNB31 depending on their position. We found that the mouse DFNB31 ortholog (Dfnb31) expressed different mRNA variants and whirlin protein isoforms in the cochlea and retina, where these isoforms played different roles spatially and temporally...
November 1, 2015: Human Molecular Genetics
Malika Dahmani, Fatima Ammar-Khodja, Crystel Bonnet, Gaelle M Lefèvre, Jean-Pierre Hardelin, Hassina Ibrahim, Zahia Mallek, Christine Petit
BACKGROUND: More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian siblings born to consanguineous parents, and affected by progressive hearing loss. METHOD: After exclusion of GJB2 (the gene most frequently involved in non-syndromic deafness in Mediterranean countries), we performed whole-exome sequencing in one sibling...
2015: Orphanet Journal of Rare Diseases
Ana Rita Lameiras, Ana Cláudia Gonçalves, Ricardo Santos, Assunção O'Neill, Luís Roque Dos Reis, Tiago Daniel Matos, Graça Fialho, Helena Caria, Pedro Escada
INTRODUCTION: Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are due to genetic causes, of which 70% are non-syndromic. Of these, 75-80% are inherited in an autosomal recessive pattern (DFNB). Mutations in GJB2 gene, coding for connexin 26 (Cx26), are the major cause of autosomal recessive hereditary HL, but some GJB2 mutations are yet of unclear or controversial significance...
August 2015: International Journal of Pediatric Otorhinolaryngology
Fatima Ammar-Khodja, Crystel Bonnet, Malika Dahmani, Sofiane Ouhab, Gaelle M Lefèvre, Hassina Ibrahim, Jean-Pierre Hardelin, Dominique Weil, Malek Louha, Christine Petit
The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time-consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in GJB2 and the recurrent p...
May 2015: Molecular Genetics & Genomic Medicine
Xiaodong Gu, Shan Sun, Luo Guo, Xiaoling Lu, Honglin Mei, Chuijin Lai, Huawei Li
OBJECTIVE: Autosomal recessive non-syndromic hearing loss (DFNB) is a genetically heterogeneous disorder. So far, 55 pathogenic genes have been identified. In this study, we aim to characterize the clinical feature and the genetic cause of a Chinese DFNB family. METHODS: Whole exome sequencing was performed on the proband. Co-segregation between the hearing loss phenotype and the potential causative mutations was verified in all family members by Sanger sequencing...
June 2015: International Journal of Pediatric Otorhinolaryngology
E A Bliznets, O N Makienko, E G Okuneva, T G Markova, A V Poliakov
Hereditary hearing loss with the autosomal recessive type of inheritance of the DFNB 1 genetic type, caused by mutations in the GJB2 gene, is the main reason of innate non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defectors; however, extended deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known extended deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family...
April 2014: Genetika
Ah Reum Kim, Mun Young Chang, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi
TECTA is a causative gene of autosomal dominant (DFNA8/A12) and autosomal recessive (DFNB 21) nonsyndromic sensorineural hearing loss (NSHL). Mutations in TECTA account for 4% of all autosomal dominant NSHL cases in some populations and are thus thought to be one of the major causes of autosomal dominant NSHL. A genotype-phenotype correlation for autosomal dominant mutations in the TECTA gene has been proposed. Two families (SB146 and SB149), which segregated moderate NSHL in an autosomal dominant fashion, were included in this study...
2015: Audiology & Neuro-otology
Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing
BACKGROUND: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequencing (MPS) to address this issue. METHODS: Using targeted genomic capture and MPS, 104 genes and three microRNA regions were selected and simultaneously sequenced in 23 unrelated probands of Chinese families with nonsyndromic hearing loss...
2014: Journal of Translational Medicine
Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c...
2014: PloS One
Zhiqing Zhao, Yijian Feng, Huajun Feng, Abbas Ghulam, Yao Su, Dongsheng Shen
The fluorinated compounds are becoming a ubiquitous class of environmental contaminants because of their widespread applications, and their fate is a matter of great concern under anaerobic environment. In this work, the biotransformation of five fluoronitrobenzenes (FNBs), i.e., 2-fluoronitrobenzene (2-FNB), 3-fluoronitrobenzene (3-FNB), 4-fluoronitrobenzene (4-FNB), 2,4-difluoronitrobenzene (2,4-DFNB), and 2,3,4-trifluoronitrobenzene (2,3,4-TFNB), under methanogenic conditions had been studied by semicontinuous and batch tests for the first time...
2014: Journal of Environmental Science and Health. Part A, Toxic/hazardous Substances & Environmental Engineering
Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati, Christine Petit
BACKGROUND: Almost 90% of all cases of congenital, non-syndromic, severe to profound inherited deafness display an autosomal recessive mode of transmission (DFNB forms). To date, 47 causal DFNB genes have been identified, but many others remain to be discovered. We report the study of two siblings born to consanguineous Algerian parents and affected by isolated, profound congenital deafness. METHOD: Whole-exome sequencing was carried out on these patients after a failure to identify mutations in the DFNB genes frequently involved...
2014: Orphanet Journal of Rare Diseases
Mohsin Shahzad, Theru A Sivakumaran, Tanveer A Qaiser, Julie M Schultz, Zawar Hussain, Megan Flanagan, Munir A Bhinder, Diane Kissell, John H Greinwald, Shaheen N Khan, Thomas B Friedman, Kejian Zhang, Saima Riazuddin, Sheikh Riazuddin, Zubair M Ahmed
OBJECTIVE: To identify the genetic cause of prelingual sensorineural hearing loss in Pakistani families using a next-generation sequencing (NGS)-based mutation screening test named OtoSeq. STUDY DESIGN: Prospective study. SETTING: Research laboratory. SUBJECTS AND METHODS: We used 3 fluorescently labeled short tandem repeat (STR) markers for each of the known autosomal recessive nonsyndromic (DFNB) and Usher syndrome (USH) locus to perform a linkage analysis of 243 multigenerational Pakistani families segregating prelingual hearing loss...
September 2013: Otolaryngology—Head and Neck Surgery
Mediha Trabelsi, Wafa Bahri, Marwene Habibi, Rim Zainine, Faouzi Maazoul, Besbes Ghazi, Habiba Chaabouni, Ridha Mrad
UNLABELLED: Autosomal recessive nonsyndromic deafness (ARNSD or DFNB) is a very common genetically heterogenous disorder. Although DFNB1 mutations are known to be the most frequent cause of this disorder, they are largely dependent on ethnic groups. The aims of our study are to specify the prevalence and the spectrum of GJB2 mutations as well as the prevalence of GJB6 large deletion in Tunisian population. PATIENTS AND METHODS: 95 unrelated patients with moderate to severe sensorineural hearing loss have been tested...
May 2013: International Journal of Pediatric Otorhinolaryngology
Ma Tabatabaiefar, F Alasti, M Montazer Zohour, L Shariati, E Farrokhi, Dd Farhud, Gv Camp, Mr Noori-Daloii, M Hashemzadeh Chaleshtori
BACKGROUND: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syndromic HL (ARNSHL) is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci (known as DFNB) have been identified. This study was launched to determine the relative contribution of more frequent loci in a cohort of ARNSHL families. METHODS: Thirty-seven Iranian families including 36 ARNSHL families and 1 family with Pendred syndrome each with ≥ 4 affected individuals, from seven provinces of Iran, were ascertained...
2011: Iranian Journal of Public Health
Dana Šafka Brožková, Jana Laštůvková, Eliška Machalová, Jana Lisoňová, Marie Trková, Pavel Seeman
OBJECTIVES: Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL. PATIENTS AND METHODS: A consanguineous Czech family with a child with NSHL was genotyped using SNP array and homozygous regions were compared with previously reported DFNB loci. RESULTS: GRXCR1 and ESRRB genes associated with autosomal recessive NSHL were located in two of the eight homozygous regions detected by SNP array genotyping...
November 2012: International Journal of Pediatric Otorhinolaryngology
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