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Genetics of deafness

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https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#1
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28043919/a-spontaneous-and-novel-pax3-mutant-mouse-that-models-waardenburg-syndrome-and-neural-tube-defects
#2
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency. OBJECTIVE: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background...
December 30, 2016: Gene
https://www.readbyqxmd.com/read/28039372/global-analysis-of-protein-expression-of-inner-ear-hair-cells
#3
Ann E Hickox, Ann C Y Wong, Kwang Pak, Chelsee Strojny, Miguel Ramirez, John R Yates, Allen F Ryan, Jeffrey N Savas
: The mammalian inner ear subserves auditory and vestibular sensations via highly specialized cells and proteins. Sensory receptor hair cells (HCs) are necessary for transducing mechanical inputs and stimulating sensory neurons by employing a host of known and yet unknown protein machinery. To understand the protein composition of these unique post-mitotic cells, in which irreversible protein degradation or damage can lead to impaired hearing and balance, we analyzed inner ear samples by tandem mass spectrometry to generate an unbiased, shotgun-proteomics view of protein identities and abundances...
December 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28039263/variants-in-wfs1-and-other-mendelian-deafness-genes-are-associated-with-cisplatin-associated-ototoxicity
#4
Heather E Wheeler, Eric R Gamazon, Robert Frisina, Carlos Perez-Cervantes, Omar El Charif, Brandon Mapes, Sophie D Fossa, Darren Feldman, Robert Hamilton, David J Vaughn, Clair Beard, Chunkit Fung, Christian Kollmannsberger, Jeri Kim, Taisei Mushiroda, Michiaki Kubo, Shirin Ardeshir-Rouhani-Fard, Lawrence H Einhorn, Nancy Cox, M Eileen Dolan, Lois Travis
PURPOSE: Cisplatin is one of the most commonly used chemotherapy drugs worldwide and one of the most ototoxic. We sought to identify genetic variants that modulate cisplatin-associated ototoxicity (CAO). EXPERIMENTAL DESIGN: We performed a genome-wide association study (GWAS) of CAO using quantitative audiometry (4-12 kHz) in 511 testicular cancer survivors of European genetic ancestry. We performed polygenic modeling and functional analyses using a variety of publicly available databases...
December 30, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytophaties-phenotypes
#5
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luisa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
December 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28018436/chromosome-11q13-deletion-syndrome
#6
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017249/slowly-progressive-d-bifunctional-protein-deficiency-with-survival-to-adulthood-diagnosed-by-whole-exome-sequencing
#7
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
d-Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4. It is typically fatal by the age of two years with symptom onset during the neonatal period, and survival until late childhood is rare. We herein report the case of a patient with DBP deficiency surviving until adulthood, who showed severe sensorineural deafness, disturbances in language acquisition, slowly progressive cerebellar ataxia, and peripheral neuropathy. This patient, in whom findings of prior investigations were nondiagnostic, had been followed up as having an early-onset spinocerebellar degeneration of unknown etiology...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28012541/a-novel-tecta-mutation-causes-arnshl
#8
Samira Asgharzade, Mohammad Amin Tabatabaiefar, Mohammad Hossein Modarressi, Mohammad Hossein Ghahremani, Somayeh Reiisi, Parisa Tahmasebi, Fatemeh Abdollahnejad, Morteza Hashemzadeh Chaleshtori
OBJECTIVE: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL). METHODS: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Clinical inspections including audiometric and otologic examinations ruled out syndromic forms...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28012540/first-report-of-prevalence-c-ivs1-1g-a-and-del-gjb6-13s1854-mutations-in-syrian-families-with-non-syndromic-sensorineural-hearing-loss
#9
Walid Al-Achkar, Bassel Al-Halabi, Bashar Ali, Faten Moassass
OBJECTIVE: Mutations in GJB2 and GJB6 genes are a frequent cause of congenital non-syndromic hearing loss (NSHL). Mutational screening has usually focused on coding region of GJB2 gene. A few studies have been conducted on the non-coding region and exon 1. c.IVS1+1G>A (a splice site mutation in GJB2 gene have been detected as disruptive mutation. Del (GJB6 D13S1830) is found in many populations, but del (GJB6 D13S1854) is reported from a few restricted countries. This study was carried out to investigate the prevalence of splice site mutation c...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28012523/digenic-mutations-involving-both-the-bsnd-and-gjb2-genes-detected-in-bartter-syndrome-type-iv
#10
Hong-Han Wang, Yong Feng, Hai-Bo Li, Hong Wu, Ling-Yun Mei, Xing-Wei Wang, Lu Jiang, Chu-Feng He
Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28003645/hmsn-lom-in-12-czech-patients-with-one-unusual-case-due-to-uniparental-isodisomy-of-chromosome-8
#11
Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, Jana Sabová, Marcela Krůtová, Vladimír Peřina, Marie Trková, Petra Laššuthová, Pavel Seeman
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27997596/a-new-genetic-diagnostic-for-enlarged-vestibular-aqueduct-based-on-next-generation-sequencing
#12
Yalan Liu, Lili Wang, Yong Feng, Chufeng He, Deyuan Liu, Xinzhang Cai, Lu Jiang, Hongsheng Chen, Chang Liu, Hong Wu, Lingyun Mei
Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner ear malformations and accounts for 1-12% of sensorineural deafness in children and adolescents. Multiple genetic defects contribute to EVA; therefore, early molecular diagnosis is critical for EVA patients to ensure that the most effective treatment strategies are employed. This study explored a new genetic diagnosis method for EVA and applied it to clinic diagnoses of EVA patients. Using next-generation sequencing technology, we set up a multiple polymerase chain reaction enrichment system for target regions of EVA pathogenic genes (SLC26A4, FOXI1, and KCNJ10)...
2016: PloS One
https://www.readbyqxmd.com/read/27984600/-identification-of-novel-common-mutations-among-patients-with-non-syndromic-hearing-loss-with-high-throughput-gene-capture-technology
#13
Yongan Zhou, Hongyan Zeng, Xiangshao Li, Huifang Yang, Wei Guo, Ziqi Hao, Pengli Li, Jiao Li, Xiaoli Zhao, Xiang Wang, Li Xia, Siqi Ma
OBJECTIVE: To identify novel common mutations among patients with non-syndromic hearing loss (NSHL). METHODS: High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing. RESULTS: Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27968899/deafness-genes-in-families-with-non-syndromic-hearing-loss-in-shandong-china-a-genetic-study
#14
Xiaohui Bai, Lei Xu, Fengguo Zhang, Yun Xiao, Jianfeng Li, Haibo Wang
BACKGROUND: Hearing loss is the most frequent sensory disorder, affecting 1 in 500 newborns. More than 90 genes are associated with non-syndromic hearing loss. In this study we aimed to investigate the genetic etiology of families with non-syndromic hearing loss in Shandong, China. METHODS: Patients included in this study were sequentially referred to the Otolaryngology Department, Shandong Provincial Hospital. All participants (or their parents) gave informed consent...
October 2016: Lancet
https://www.readbyqxmd.com/read/27966545/the-novel-homozygous-kcnj10-c-986t-c-p-leu329pro-variant-is-pathogenic-for-the-sesame-east-homologue-in-malinois-dogs
#15
Mario Van Poucke, Kimberley Stee, Sofie F M Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in two families belonging to the Malinois dog breed, based on clinical, neurological, electrodiagnostic and histopathological examination. Genetic analysis detected a novel pathogenic KCNJ10 c.986T>C (p.(Leu329Pro)) variant that is inherited in an autosomal recessive way...
December 14, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27965898/nlrp3-is-expressed-in-the-spiral-ganglion-neurons-and-associated-with-both-syndromic-and-nonsyndromic-sensorineural-deafness
#16
Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness...
2016: Neural Plasticity
https://www.readbyqxmd.com/read/27959894/sound-induced-intracellular-ca2-dynamics-in-the-adult-hearing-cochlea
#17
Dylan K Chan, Stephanie L Rouse
Ca2+ signaling has been implicated in the initial pathophysiologic mechanisms underlying the cochlea's response to acoustic overstimulation. Intracellular Ca2+ signaling (ICS) waves, which occur in glia and retinal cells in response to injury to activate cell regulatory pathways, have been proposed as an early event in cochlear injury. Disruption of ICS activity is thought to underlie Connexin 26-associated hearing loss, the most common genetic form of deafness, and downstream sequelae of ICS wave activity, such as MAP kinase pathway activation, have been implicated in noise-induced hearing loss...
2016: PloS One
https://www.readbyqxmd.com/read/27958602/severe-to-profound-deafness-may-be-associated-with-myh9-related-disease-report-of-4-patients
#18
P Canzi, A Pecci, M Manfrin, E Rebecchi, C Zaninetti, V Bozzi, M Benazzo
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27957503/usher-syndrome-in-denmark-mutation-spectrum-and-some-clinical-observations
#19
Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne-Françoise Roux, Thomas Rosenberg, Hanne Jensen, Lisbeth Birk Møller
BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. RESULTS: Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C,USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27938597/-diagnosis-of-a-case-with-williams-beuren-syndrome-with-nephrocalcinosis-using-chromosome-microarray-analysis
#20
S J Jin, M Liu, W J Long, X P Luo
Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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