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Exome sequencing, hearing loss

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https://www.readbyqxmd.com/read/29765451/sequencing-of-exons-4-5-12-of-coch-gene-in-patients-with-postlingual-sensorineural-hearing-loss-accompanied-by-vestibular-lesion
#1
Marzena Mielczarek, Jurek Olszewski, Piotr Pietkiewicz
Introduction: Mutations at the DFNA9 locus on chromosome 14q12 are the third most common form of DFNA hearing loss, which is clinically characterized by late onset (in adulthood) progressive sensorineural hearing loss accompanied by vestibular dysfunction. The aim of the study was to search for COCH gene mutations (P51S, V66G, G87W, G88E, V104del, I109N, W117R, A119T, M512T, C542Y) in patients with severe or profound sensorineural hearing loss accompanied by a vestibular lesion. Material and methods: The study was based on a group of 30 patients...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29751260/forkhead-box-c1-gene-variant-causing-glaucoma-and-small-vessel-angiopathy-can-mimic-multiple-sclerosis
#2
Jagannadha R Avasarala, Julie R Jones, Curtis R Rogers
A 34-year old Caucasian female was initially diagnosed with multiple small-vessel strokes at age 20 years which were etiologically classified as secondary to anti-phospholipid antibody syndrome (APS) although she had no history or laboratory data to suggest APS. Based on her MRI of brain findings, one of her neurologists was concerned she could have multiple sclerosis (MS) and hence the patient was referred to our clinic for further evaluation. The patient's MRI of brain showed confluent lesions in the periventricular and juxta-cortical lesions that fulfil 2017 McDonald criteria for dissemination in space...
April 21, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29739340/mutation-analysis-of-slc26a4-pendrin-gene-in-a-brazilian-sample-of-hearing-impaired-subjects
#3
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
BACKGROUND: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#4
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29713870/elmod3-a-novel-causative-gene-associated-with-human-autosomal-dominant-nonsyndromic-and-progressive-hearing-loss
#5
Wu Li, Jie Sun, Jie Ling, Jiada Li, Chufeng He, Yalan Liu, Hongsheng Chen, Meichao Men, Zhijie Niu, Yuyuan Deng, Meng Li, Taoxi Li, Jie Wen, Shushan Sang, Haibo Li, Zhengqing Wan, Elodie M Richard, Prem Chapagain, Denise Yan, Xue Zhong Liu, Lingyun Mei, Yong Feng
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were analyzed by whole exome capture sequencing. To assess the functional effect of the identified variant, in-vitro studies were performed...
April 2018: Human Genetics
https://www.readbyqxmd.com/read/29671961/tmtc2-variant-associated-with-sensorineural-hearing-loss-and-auditory-neuropathy-spectrum-disorder-in-a-family-dyad
#6
Hector Guillen-Ahlers, Christy B Erbe, Frédéric D Chevalier, Maria J Montoya, Kip D Zimmerman, Carl D Langefeld, Michael Olivier, Christina L Runge
BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized. METHODS: A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD...
April 19, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29605370/a-novel-missense-mutation-in-gipc3-causes-sensorineural-hearing-loss-in-an-iranian-family-revealed-by-targeted-next-generation-sequencing
#7
Samira Asgharzade, Mohammad Amin Tabatabaiefar, Javad Mohammadi-Asl, Morteza Hashemzadeh Chaleshtori
BACKGROUND: Recent studies have confirmed the utility of targeted next-generation sequencing (NGS), providing a remarkable opportunity to find variants in known disease genes, especially in genetically heterogeneous disorders such as hearing loss (HL). METHODS: After excluding mutations in the most common autosomal recessive non-syndromic HL (ARNSHL) genes via Sanger sequencing and genetic linkage analysis, we performed NGS in the proband an Iranian family with ARNSHL...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29605349/utility-of-whole-exome-sequencing-in-the-diagnosis-of-usher-syndrome-report-of-novel-compound-heterozygous-myo7a-mutations
#8
Khushnooda Ramzan, Mohammed Al-Owain, Rozeena Huma, Selwa A F Al-Hazzaa, Sarah Al-Ageel, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis. Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29595809/audiome-a-tiered-exome-sequencing-based-comprehensive-gene-panel-for-the-diagnosis-of-heterogeneous-nonsyndromic-sensorineural-hearing-loss
#9
Qiaoning Guan, Jorune Balciuniene, Kajia Cao, Zhiqian Fan, Sawona Biswas, Alisha Wilkens, Daniel J Gallo, Emma Bedoukian, Jennifer Tarpinian, Pushkala Jayaraman, Mahdi Sarmady, Matthew Dulik, Avni Santani, Nancy Spinner, Ahmad N Abou Tayoun, Ian D Krantz, Laura K Conlin, Minjie Luo
PurposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.MethodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29590114/mutations-in-diphosphoinositol-pentakisphosphate-kinase-ppip5k2-are-associated-with-hearing-loss-in-human-and-mouse
#10
Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing revealed a c.2510G>A transition variant in PPIP5K2 that segregated with DFNB100-associated hearing loss in two large apparently unrelated Pakistani families. PPIP5Ks enzymes interconvert 5-IP7 and IP8, two key members of the inositol pyrophosphate (PP-IP) cell-signaling family...
March 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29576219/bi-allelic-mutations-in-the-mitochondrial-ribosomal-protein-mrps2-cause-sensorineural-hearing-loss-hypoglycemia-and-multiple-oxphos-complex-deficiencies
#11
Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero-Castillo, Daisy Dalloyaux, Mariël van den Brand, Sanne van Kraaij, Ellyze van Asbeck, Zahra Assouline, Marlene Rio, Pascale de Lonlay, Sabine Scholl-Buergi, David F G J Wolthuis, Alexander Hoischen, Richard J Rodenburg, Wolfgang Sperl, Zsolt Urban, Ulrich Brandt, Johannes A Mayr, Sunnie Wong, Arjan P M de Brouwer, Leo Nijtmans, Arnold Munnich, Agnès Rötig, Ron A Wevers, Metodi D Metodiev, Eva Morava
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing number of gene mutations that impair mitoribosomal function and result in multiple OXPHOS deficiencies are being linked to human mitochondrial diseases...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29559740/a-novel-mutation-in-the-smpx-gene-associated-with-x-linked-nonsyndromic-sensorineural-hearing-loss-in-a-chinese-family
#12
Yuyuan Deng, Zhijie Niu, LiangLiang Fan, Jie Ling, Hongsheng Chen, Xinzhang Cai, Lingyun Mei, Chufeng He, Xuewei Zhang, Jie Wen, Meng Li, Wu Li, Taoxi Li, Shushan Sang, Yalan Liu, Yong Feng
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls...
March 20, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29484430/a-novel-variant-in-mitf-in-a-child-from-yunnan-guizhou-plateau-with-autosomal-dominant-inheritance-of-nonsyndromic-hearing-loss-a-case-report
#13
Zhen Zhang, Quan-Dong Chen, Li-Ping Zhao, Jing Ma, Tie-Song Zhang, Jing-Xue Pang, Yang-Fang Li, Mei-Fen Wang, Ai-Ping Wang, Li Tang, Li-Jun Li, Wen-Ji He, Huaiyu Gu
Deafness and hearing loss may have functional, economic, social and emotional impacts on humans, including the ability of an individual to communicate with others, feelings of isolation and frustration, and health sector costs. The World Health Organization reported that there are 32 million children worldwide with hearing loss. In order to investigate genetic mutations in children of 26 nationalities with hearing loss in Yunnan, Sanger sequencing was employed to screen for mutations in four of the most common pathological genes, including gap junction protein β2 and 3, solute carrier family 26 member 4 and mitochondrial DNA...
April 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29482514/expansion-of-phenotypic-spectrum-of-myo15a-pathogenic-variants-to-include-postlingual-onset-of-progressive-partial-deafness
#14
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to possibly cause moderate-to-severe hearing loss. Herein, we also demonstrate that some MYO15A mutant alleles can cause postlingual onset of progressive partial deafness. METHODS: Two multiplex Korean families (SB246 and SB224), manifesting postlingual, progressive, partial deafness in an autosomal recessive fashion, were recruited...
February 27, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29453195/mutation-of-ifnlr1-an-interferon-lambda-receptor-1-is-associated-with-autosomal-dominant-non-syndromic-hearing-loss
#15
Xue Gao, Yong-Yi Yuan, Qiong-Fen Lin, Jin-Cao Xu, Wei-Qian Wang, Yue-Hua Qiao, Dong-Yang Kang, Dan Bai, Feng Xin, Sha-Sha Huang, Shi-Wei Qiu, Li-Ping Guan, Yu Su, Guo-Jian Wang, Ming-Yu Han, Yi Jiang, Han-Kui Liu, Pu Dai
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Methods Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Inner ear expression of Ifnlr1 was investigated by immunostaining in mice. ifnlr1 Morpholino knockdown Zebrafish were constructed to explore the deafness mechanism...
May 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29447883/whole-exome-sequencing-identifies-a-pathogenic-mutation-in-wfs1-in-two-large-chinese-families-with-autosomal-dominant-all-frequency-hearing-loss-and-prenatal-counseling
#16
Hongbo Cheng, Qin Zhang, Wenbin Wang, Qingxia Meng, Fuxin Wang, Minjuan Liu, Jun Mao, Yichao Shi, Wei Wang, Hong Li
OBJECTIVES: To identify the pathogenic mutation and provide prenatal counseling and diagnosis in two large Chinese families with autosomal dominant all-frequency hearing loss. METHODS: Whole exome sequencing technology was used to identify the pathogenic mutation of the two families. In addition, 298 patients with sporadic hearing loss and 400 normal controls were studied to verify the mutation/polymorphism nature of the identified variant. Prenatal diagnosis was carried out...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29429573/loss-of-function-mutations-in-unc45a-cause-a-syndrome-associating-cholestasis-diarrhea-impaired-hearing-and-bone-fragility
#17
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, Aurélie Bourchany, Cécile De Leusse, Evelyne Marinier, Arnaud Blanchard, Patrice Bourgeois, Céline Brochier-Armanet, Ange-Line Bruel, Arnauld Delarue, Yannis Duffourd, Emmanuelle Ecochard-Dugelay, Géraldine Hery, Frédéric Huet, Philippe Gauchez, Emmanuel Gonzales, Catherine Guettier-Bouttier, Mina Komuta, Caroline Lacoste, Raphaelle Maudinas, Karin Mazodier, Yves Rimet, Jean-Baptiste Rivière, Bertrand Roquelaure, Sabine Sigaudy, Xavier Stephenne, Christel Thauvin-Robinet, Julien Thevenon, Jacques Sarles, Nicolas Levy, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Nicholas Katsanis, Laurence Faivre, Alexandre Fabre
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function...
March 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29407414/biallelic-intragenic-deletion-in-masp1-in-an-adult-female-with-3mc-syndrome
#18
Luitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, Steffen Uebe, Arif B Ekici, Christian T Thiel, André Reis, Christiane Zweier
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in one of three genes, MASP1, COLEC11 and COLEC10, all encoding factors of the lectin complement pathway. In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP-3 are causative. By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or short stature...
January 31, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29343804/compound-heterozygous-spata5-variants-in-four-families-and-functional-studies-of-spata5-deficiency
#19
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#20
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
February 2018: Fetal and Pediatric Pathology
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