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Ashraf Dallol, Kamal Daghistani, Aisha Elaimi, Wissam A Al-Wazani, Afaf Bamanie, Malek Safiah, Samira Sagaty, Layla Taha, Rawabi Zahed, Osama Bajouh, Adeel Gulzar Chaudhary, Mamdooh Abdullah Gari, Rola Turki, Mohammed Hussein Al-Qahtani, Adel Mohammed Abuzenadah
BACKGROUND: Hearing Impairment (HI) can have genetic or environmental causes and in some cases, an interplay of both. Genetic causes are difficult to determine as mutations in more than 90 genes have been shown recently to be responsible for HI. Providing a genetic diagnostic test for HI is therefore a challenge especially for ethnic groups where GJB2 mutations are shown to be rare. RESULTS: Here we show the design and implementation of an amplicon-based targeted sequencing panel that allows the simultaneous sequencing of 87 HI genes...
October 10, 2016: BMC Medical Genetics
Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A Gordhandas, Lynn Pique, Iris Schrijver
We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly inherited, p.Gly45Glu has been implicated in the rare fatal keratitis-ichthyosis-deafness (KID) syndrome, which results in cutaneous infections and septicemia with premature demise in the first year of life. In contrast, p...
2016: PeerJ
Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Christina Sloan-Heggen, Sanaz Arzhangi, Kevin Booth, Marzieh Mohseni, Kathy Frees, Mohammad Hossein Azizi, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard Jh Smith, Hossein Najmabadi
A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran...
October 1, 2016: Archives of Iranian Medicine
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi, Andrea Angius, Khalsa Al Lamki, Giorgia Girotto, Tania Giangregorio, Matteo Benelli, Alberto Magi, Marco Seri, Paolo Gasparini, Francesco Cucca, Marco Sazzini, Mazin Al Khabori, Tommaso Pippucci, Giovanni Romeo
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described...
October 13, 2016: Journal of Human Genetics
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
Yongzhi Liu, Liying Ao, Haitao Ding, Dongli Zhang
The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients...
October 10, 2016: Genetics and Molecular Biology
Somayeh Reiisi, Mohammad Amin Tabatabaiefar, Mohammad Hosein Sanati, Morteza Hashemzadeh Chaleshtori
OBJECTIVES: Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide...
July 2016: Iranian Journal of Basic Medical Sciences
Ying Chen, Lingxiang Hu, Xueling Wang, Changling Sun, Xin Lin, Lei Li, Ling Mei, Zhiwu Huang, Tao Yang, Hao Wu
The homozygous p.V37I variant in GJB2 is prevalent in East and Southeast Asians and may lead to mild-to-moderate hearing loss with reduced penetrance. To investigate the pathogenic mechanism underlying this variant, we generated a knock-in mouse model of homozygous p.V37I by an embryonic stem cell gene targeting method. Auditory brainstem response test showed that the knock-in mice developed progressive, mild-to-moderate hearing loss over the first 4-9 months. Overall no significant developmental and morphological abnormality was observed in the knock-in mouse cochlea, while confocal immunostaining and electron microscopic scanning revealed minor loss of the outer hair cells...
2016: Scientific Reports
Siqi Chen, Cheng Dong, Qi Wang, Zhen Zhong, Yu Qi, Xiaomei Ke, Yuhe Liu
AIMS: We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing (NGS). MATERIALS AND METHODS: The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss. RESULTS: Thirty potentially causative mutations from these 60 genes were identified as the likely etiologies of hearing loss in 67 of the cases...
September 9, 2016: Genetic Testing and Molecular Biomarkers
Kyu-Hee Han, Ah Reum Kim, Min Young Kim, Soyeon Ahn, Seung-Ha Oh, Ju Hun Song, Byung Yoon Choi
Many cutting-edge technologies based on next-generation sequencing (NGS) have been employed to identify candidate variants responsible for sensorineural hearing loss (SNHL). However, these methods have limitations preventing their wide clinical use for primary screening, in that they remain costly and it is not always suitable to analyze massive amounts of data. Several different DNA chips have been developed for screening prevalent mutations at a lower cost. However, most of these platforms do not offer the flexibility to add or remove target mutations, thereby limiting their wider use in a field that requires frequent updates...
2016: PloS One
S Naz, A Imtiaz, G Mujtaba, A Maqsood, R Bashir, I Bukhari, M R Khan, M Ramzan, A Fatima, A U Rehman, M Iqbal, T Chaudhry, M Lund, C C Brewer, R J Morell, T B Friedman
The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families...
October 6, 2016: Clinical Genetics
Qi Peng, Suran Huang, Yuan Liang, Keze Ma, Siping Li, Lin Yang, Wenrui Li, Qiang Ma, Qian Liu, Baimao Zhong, Xiaomei Lu
OBJECTIVE: The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment...
October 2016: Genetic Testing and Molecular Biomarkers
L Shi, J Chen, J Li, X Wei, X Gao
OBJECTIVE: GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation. METHOD: The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation. RESULTS: Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c...
August 18, 2016: Journal of Laryngology and Otology
Xiaoli Fu, Yi Cai, Yechen Hu, Jisheng Liu, Tao Yang
Approximately 80% of hereditary deafness is recessive, in which case most mutation carriers were unaware of their carrier status. Though parental attitudes toward genetic testing and prenatal diagnosis are overall positive in those with deaf children, there is little information about that in the general population. To this end, we designed a self-completed questionnaire and distributed it in two colleges in Shanghai, China. A total of 975 completed surveys were returned in print or online forms. Our results showed that 98...
August 11, 2016: American Journal of Medical Genetics. Part A
Cristina Caroça, Tiago Morim de Matos, Diogo Ribeiro, Vera Lourenço, Tânia Martins, Paula Campelo, Graça Fialho, Susana Nunes Silva, João Paço, Helena Caria
Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination...
August 2016: Omics: a Journal of Integrative Biology
Maayan Gruber, Colin Brown, Murali Mahadevan, Graeme van der Meer, Michel Neeff
OBJECTIVE: To explore the role and yield of multigene evaluation in children recently diagnosed with unilateral sensori-neural hearing loss (SNHL). STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary level pediatric institution. PATIENTS: Sixty children diagnosed with unilateral SNHL between January 2005 and December 2015. INTERVENTION: Targeted mutation analysis was performed in 51 children using DNA microarray for genotyping 11 different genes known to be correlated with nonsyndromic SNHL...
September 2016: Otology & Neurotology
Yuanyuan Peng, Donglan Sun, Lijuan Zhao, Yanhua Zhang, Xia Zhao
OBJECTIVE: To screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age. METHODS: In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip. RESULTS: Twenty women (6.17%) have carried mutations. These included 11 (3.40%) carrying a GJB2 gene mutation, 7 (2.16%) carrying a SLC26A4 gene mutation, 1 (0.31%) simultaneously carrying GJB3 and GJB2 gene mutations, and 1 (0...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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
Yu Ding, Bo-Hou Xia, Qi Liu, Mei-Ya Li, Shui-Xian Huang, Guang-Chao Zhuo
Mutations in mitochondrial 12S rRNA (MT-RNR1) are the important causes of sensorineural hearing loss. Of these mutations, the homoplasmic m.1555A>G or m.1494C>T mutation in the highly conserved A-site of MT-RNR1 gene has been found to be associated with both aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. Since the m.1555A>G and m.1494C>T mutations are sensitive to ototoxic drugs, therefore, screening for the presence of these mutations is important for early diagnosis and prevention of deafness...
October 10, 2016: Gene
Sarah Hull, Aeesha N J Malik, Gavin Arno, Donna S Mackay, Vincent Plagnol, Michel Michaelides, Sahar Mansour, Assunta Albanese, Katrina Tatton Brown, Graham E Holder, Andrew R Webster, Paul T Heath, Anthony T Moore
IMPORTANCE: A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized retinal dystrophy is caused by TRNT1. This report of a family with a homozygous mutation in TRNT1 expands the ocular phenotype to include cataract and inner retinal dysfunction and details a mild systemic phenotype. OBSERVATIONS: A consanguineous family with 3 affected children was investigated. Key clinical features comprised hypogammaglobulinemia, short stature with microcephaly, cataract, and inner retinal dysfunction without sideroblastic anemia or developmental delay...
September 1, 2016: JAMA Ophthalmology
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