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https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#1
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29738887/transcriptome-analysis-reveals-enrichment-of-genes-associated-with-auditory-system-in-swimbladder-of-channel-catfish
#2
Yujia Yang, Xiaozhu Wang, Yang Liu, Qiang Fu, Changxu Tian, Chenglong Wu, Huitong Shi, Zihao Yuan, Suxu Tan, Shikai Liu, Dongya Gao, Rex Dunham, Zhanjiang Liu
In aquatic organisms, hearing is an important sense for acoustic communications and detection of sound-emitting predators and prey. Channel catfish is a dominant aquaculture species in the United States. As channel catfish can hear sounds of relatively high frequency, it serves as a good model for study auditory mechanisms. In catfishes, Weberian ossicles connect the swimbladder to the inner ear to transfer the forced vibrations and improve hearing ability. In this study, we examined the transcriptional profiles of channel catfish swimbladder and other four tissues (gill, liver, skin, and intestine)...
April 30, 2018: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/29668032/presence-of-meniscus-tear-alters-gene-expression-profile-of-anterior-cruciate-ligament-tears
#3
Robert H Brophy, Marcus A Rothermich, Eric D Tycksen, Lei Cai, Muhammad Farooq Rai
Anterior cruciate ligament (ACL) tears occur in isolation or in tandem with other intra-articular injuries such as meniscus tears. The impact of injury pattern on the molecular biology of the injured ACL is unknown. Here, we tested the hypothesis that the biological response of the ACL to injury varies based on the presence or absence of concomitant meniscus tear. We performed RNA-seq on 28 ACL tears remnants (12 isolated, 16 combined). In total, 16,654 transcripts were differentially-expressed between isolated and combined injury groups at false-discovery-rate of 0...
April 18, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29660607/generation-of-an-ips-cell-line-via-a-non-integrative-method-using-urine-derived-cells-from-a-patient-with-ush2a-associated-retinitis-pigmentosa
#4
Yonglong Guo, Qiaolang Zeng, Shiwei Liu, Quan Yu, Peiyuan Wang, Hongjie Ma, Shanshan Shi, Xin Yan, Zekai Cui, Mengyuan Xie, Yunxia Xue, Qingbing Zha, Zhijie Li, Jun Zhang, Shibo Tang, Jiansu Chen
We have established an induced pluripotent stem (iPS) cell line using urine-derived cells from a 27-year-old male patient with retinitis pigmentosa associated with point mutations in the USH2A gene. Feeder-free culture conditions and the integration-free CytoTune™-iPS 2.0 Sendai Reprogramming Kit were used.
April 6, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29655801/analysis-of-intragenic-ush2a-copy-number-variation-unveils-broad-spectrum-of-unique-and-recurrent-variants
#5
Christina A Austin-Tse, Diana L Mandelker, Andrea M Oza, Heather Mason-Suares, Heidi L Rehm, Sami S Amr
Given that all forms of Usher syndrome (USH) present with hearing loss in advance of retinal disease, the syndromic nature of the disorder is rarely appreciated when critical management decisions are being made. As a result, molecular diagnostics are crucial in guiding the management of USH patients. While 11 genes have been associated with USH, the USH2A gene is one of the largest contributors. Approximately 20% of suspected USH probands that undergo USH2A sequencing at our laboratory receive an inconclusive result due to the identification of a monoallelic disease-causing variant in USH2A...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29625443/comprehensive-molecular-screening-in-chinese-usher-syndrome-patients
#6
Tengyang Sun, Ke Xu, Yanfan Ren, Yue Xie, Xiaohui Zhang, Lu Tian, Yang Li
Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. Methods: A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29588463/combining-targeted-panel-based-resequencing-and-copy-number-variation-analysis-for-the-diagnosis-of-inherited-syndromic-retinopathies-and-associated-ciliopathies
#7
Iker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. The heterogeneity of these conditions makes molecular and clinical characterization of patients challenging in daily clinical practice. We explored the capacity of targeted resequencing and copy-number variation analysis to improve diagnosis of a heterogeneous cohort of 47 patients mainly comprising atypical cases that did not clearly fit a specific clinical diagnosis...
March 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29490346/the-genetics-of-usher-syndrome-in-the-israeli-and-palestinian-populations
#8
Ayat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, Annick Raas-Rothschild, Israela Lerer, Yahya Alswaiti, Itay Chowers, Eyal Banin, Dror Sharon, Samer Khateb
Purpose: Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH in the Israeli and Palestinian populations. Methods: Seventy-four families with USH were recruited (23 with USH type 1 [USH1], 33 with USH2, seven with USH3, four with atypical USH, and seven families with an undetermined USH type)...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29283788/investigating-the-disease-association-of-ush2a-p-c759f-variant-by-leveraging-large-retinitis-pigmentosa-cohort-data
#9
Mariana DuPont, Evan M Jones, Mingchu Xu, Rui Chen
No abstract text is available yet for this article.
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#10
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/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#11
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29142287/targeted-next-generation-sequencing-in-italian-patients-with-usher-syndrome-phenotype-genotype-correlations
#12
Chiara M Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28984810/strc-deletion-is-a-frequent-cause-of-slight-to-moderate-congenital-hearing-impairment-in-the-czech-republic
#13
Pavlina Plevova, Martina Paprskarova, Petra Tvrda, Petra Turska, Rastislav Slavkovsky, Eva Mrazkova
OBJECTIVE: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. STUDY DESIGN: Prospective genetic study. SETTING: Tertiary referral hospital. PATIENTS: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28981474/the-genetic-basis-of-pericentral-retinitis-pigmentosa-a-form-of-mild-retinitis-pigmentosa
#14
Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A Sandberg, Daniel Navarro-Gomez, Eric A Pierce
Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES)...
October 5, 2017: Genes
https://www.readbyqxmd.com/read/28945494/identification-of-the-genetic-determinants-responsible-for-retinal-degeneration-in-families-of-mexican-descent
#15
Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti, Pongali B Raghavendra, Karine Nadeau, Bruno Lamontagne, Lambert Busque, Steve Geoffroy, Ian Mongrain, Géraldine Asselin, Sylvie Provost, Marie-Pierre Dubé, Eric Nudleman, Radha Ayyagari
PURPOSE: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. METHODS: A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees was examined for known mutations using the APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray...
January 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28944237/next-generation-sequencing-reveals-the-mutational-landscape-of-clinically-diagnosed-usher-syndrome-copy-number-variations-phenocopies-a-predominant-target-for-translational-read-through-and-pex26-mutated-in-heimler-syndrome
#16
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M Korbmacher, Dagmar Huhle, Solaf M Elsayed, Hesham M Taha, Shahid M Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O Khan, Hanno J Bolz
BACKGROUND: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). METHODS: Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. RESULTS: A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#17
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28894305/electroretinography-reveals-difference-in-cone-function-between-syndromic-and-nonsyndromic-ush2a-patients
#18
Jesse D Sengillo, Thiago Cabral, Kaspar Schuerch, Jimmy Duong, Winston Lee, Katherine Boudreault, Yu Xu, Sally Justus, Janet R Sparrow, Vinit B Mahajan, Stephen H Tsang
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28840378/panel-sequencing-of-264-candidate-susceptibility-genes-and-segregation-analysis-in-a-cohort-of-non-brca1-non-brca2-breast-cancer-families
#19
Jun Li, Hongyan Li, Igor Makunin, Bryony A Thompson, Kayoko Tao, Erin L Young, Jacqueline Lopez, Nicola J Camp, Sean V Tavtigian, Esther M John, Irene L Andrulis, Kum Kum Khanna, David Goldgar, Georgia Chenevix-Trench
PURPOSE: The main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order to identify novel susceptibility genes of moderate-high penetrance. METHODS: We screened 264 candidate susceptibility genes in 656 index cases from non-BRCA1/2 families. Potentially pathogenic candidate mutations were then genotyped in all available family members for the assessment of co-segregation of the variant with disease in the family in order to estimate the breast cancer risks associated with these mutations...
August 24, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28761320/next-generation-sequencing-to-solve-complex-inherited-retinal-dystrophy-a-case-series-of-multiple-genes-contributing-to-disease-in-extended-families
#20
Kaylie D Jones, Dianna K Wheaton, Sara J Bowne, Lori S Sullivan, David G Birch, Rui Chen, Stephen P Daiger
PURPOSE: With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. METHODS: Family members underwent comprehensive visual function evaluations, and genetic counseling including a detailed family history...
2017: Molecular Vision
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