keyword
MENU ▼
Read by QxMD icon Read
search

USH2A

keyword
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#1
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28678594/visual-outcomes-in-japanese-patients-with-retinitis-pigmentosa-and-usher-syndrome-caused-by-ush2a-mutations
#2
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations...
July 5, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28498263/cochlear-implantation-in-patients-with-usher-syndrome-type-iia-increases-performance-and-quality-of-life
#3
Bas P Hartel, Josephine W I van Nierop, Wendy J Huinck, Liselotte J C Rotteveel, Emmanuel A M Mylanus, Ad F Snik, Henricus P M Kunst, Ronald J E Pennings
OBJECTIVES: Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. Hearing rehabilitation starts in early childhood with the application of hearing aids. In some patients with USH2a, severe progression of hearing impairment leads to insufficient speech intelligibility with hearing aids and issues with adequate communication and safety. Cochlear implantation (CI) is the next step in rehabilitation of such patients...
July 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28281779/molecular-analysis-of-twelve-pakistani-families-with-nonsyndromic-or-syndromic-hearing-loss
#4
Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang
AIM: To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss. METHODS: Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted next-generation sequencing or whole-exome sequencing was used to analyze the genomic DNA samples from 11 probands with hearing loss. Sanger sequencing was performed to verify all identified variants. RESULTS: We found pathogenic, or likely to be pathogenic, mutations in all 12 families, including six known mutations in GJB2, SLC26A4, LHFPL5, and USH2A and eight novel mutations in ESPN, MYO7A, LRTOMT, PCDH15, USH2A, or EPS8L2...
May 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#5
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28137943/characterization-of-the-ternary-usher-syndrome-sans-ush2a-whirlin-protein-complex
#6
Nasrin Sorusch, Katharina Bauß, Janet Plutniok, Ananya Samanta, Barbara Knapp, Kerstin Nagel-Wolfrum, Uwe Wolfrum
The Usher syndrome (USH) is the most common form of inherited deaf-blindness, accompanied by vestibular dysfunction. Due to the heterogeneous manifestation of the clinical symptoms, three USH types (USH1-3) and additional atypical forms are distinguished. USH1 and USH2 proteins have been shown to function together in multiprotein networks in photoreceptor cells and hair cells. Mutations in USH proteins are considered to disrupt distinct USH protein networks and finally lead to the development of USH.To get novel insights into the molecular pathomechanisms underlying USH, we further characterize the periciliary USH protein network in photoreceptor cells...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28130426/genetic-analysis-of-10-pedigrees-with-inherited-retinal-degeneration-by-exome-sequencing-and-phenotype-genotype-association
#7
Pooja Biswas, Jacque L Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, Luis Gabriel, Jonathan H Lin, Giulio Barteselli, Mili Navani, John Suk, Michelle Parke, Catherine Schlechter, Richard G Weleber, John R Heckenlively, Gislin Dagnelie, Pauline Lee, S Amer Riazuddin, Radha Ayyagari
Our purpose was to identify causative mutations and characterize the phenotype associated with the genotype in 10 unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation were carried out in 10 pedigrees with inherited retinal degenerations (IRD). Exomes of probands from eight pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was performed on Illumina HiSeq. The DHDDS gene was screened for mutations in the remaining two pedigrees with Ashkenazi Jewish ancestry...
April 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28118666/genome-wide-detection-of-copy-number-variations-in-unsolved-inherited-retinal-disease
#8
Xiu-Feng Huang, Jian-Yang Mao, Zhi-Qin Huang, Feng-Qin Rao, Fei-Fei Cheng, Fen-Fen Li, Qing-Feng Wang, Zi-Bing Jin
Purpose: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders that plays a crucial role in the etiology of blindness across the world. Molecular genetic diagnosis of IRD remains extremely complex and challenging because mutations are only detected in 40% to 60% of cases. In this study, we aimed to dissect the contributions of copy number variations (CNVs) in IRD patients. Methods: A total of 50 patients were diagnosed with IRD, all of whom previously tested negative for pathogenic mutations in known disease genes...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28031293/the-roles-of-ush1-proteins-and-pdz-domain-containing-ush-proteins-in-ush2-complex-integrity-in-cochlear-hair-cells
#9
Junhuang Zou, Qian Chen, Ali Almishaal, Pranav Dinesh Mathur, Tihua Zheng, Cong Tian, Qing Y Zheng, Jun Yang
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested as USH1, USH2 and USH3 clinical types. The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells. Defects in this complex cause stereociliary bundle disorganization and hearing loss. The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28000701/the-diagnostic-yield-of-whole-exome-sequencing-targeting-a-gene-panel-for-hearing-impairment-in-the-netherlands
#10
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald Jc Admiraal, Ronald Je Pennings, Henricus Pm Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia Am de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna Gm Frints, Els K Vanhoutte, Marieke F van Dooren, Marie-José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders, Helger G Yntema
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with presumed hereditary HI underwent WES followed by targeted analysis of an HI gene panel of 120 genes. We found causative variants underlying the HI in 67 of 200 patients (33...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27957503/usher-syndrome-in-denmark-mutation-spectrum-and-some-clinical-observations
#11
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/27880076/correlation-of-ultra-widefield-fundus-autofluorescence-patterns-with-the-underlying-genotype-in-retinal-dystrophies-and-retinitis-pigmentosa
#12
George Trichonas, Elias I Traboulsi, Justis P Ehlers
PURPOSE: Ultra-widefield fundus autofluorescence (UW-FAF) allows the characterization of the peripheral retinal features of vitreoretinal diseases. The purpose of this study was to examine possible genotypic/phenotypic correlations of UW-FAF patterns in patients with a variety of retinal dystrophies and retinitis pigmentosa (RP). METHODS: An IRB-approved retrospective consecutive case series study was performed of genetically characterized retinal dystrophy or RP patients who underwent UW-FAF imaging...
November 23, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27828912/clinical-presentation-and-disease-course-of-usher-syndrome-because-of-mutations-in-myo7a-or-ush2a
#13
Francesco Testa, Paolo Melillo, Crystel Bonnet, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Anne Kurtenbach, Settimio Rossi, Elio Marciano, Alberto Auricchio, Christine Petit, Eberhart Zrenner, Francesca Simonelli
PURPOSE: To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively. METHODS: Eighty-eight patients with a clinical diagnosis of USH1 (26 patients) or USH2 (62 patients) were retrospectively evaluated. Of these, 48 patients had 2 disease-causing mutations in MYO7A (10 USH1 patients), USH2A (33 USH2 patients), and other USH (5 patients) genes...
August 2017: Retina
https://www.readbyqxmd.com/read/27802265/antisense-oligonucleotide-based-splice-correction-for-ush2a-associated-retinal-degeneration-caused-by-a-frequent-deep-intronic-mutation
#14
Radulfus Wn Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald Je Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob Wj Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In general, mutations in the USH2A gene are the most frequent cause of USH explaining up to 50% of all patients worldwide. The first deep-intronic mutation in the USH2A gene (c.7595-2144A>G) was reported in 2012, leading to the insertion of a pseudoexon (PE40) into the mature USH2A transcript...
November 1, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27632587/panretinal-degeneration-associated-with-long-term-hydroxychloroquine-use-and-heterozygous-ush2a-mutation
#15
Diana Katsman, Christian Sanfilippo, David Sarraf
PURPOSE: To report a case of bilateral panretinal degeneration in a patient with long-term hydroxychloroquine exposure and positive for a heterozygous mutation in the USH2A gene. METHODS: Retrospective case report. Multimodal imaging including spectral-domain optical coherence tomography, fundus autofluorescence, and fluorescein angiography was performed and the results are presented. Electroretinography findings are also described. RESULTS: The authors report a 39-year-old patient with a history of hydroxychloroquine therapy for 20 years (cumulative dose of 2,774 g)...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27608171/arreye-a-customized-platform-for-high-resolution-copy-number-analysis-of-coding-and-noncoding-regions-of-known-and-candidate-retinal-dystrophy-genes-and-retinal-noncoding-rnas
#16
Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P Leroy, Frauke Coppieters, Elfride De Baere
PURPOSE: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs). METHODS: arrEYE contains probes for the full genomic region of 106 known iRD genes, including those implicated in retinitis pigmentosa (RP) (the most frequent iRD), cone-rod dystrophies, macular dystrophies, and an additional 60 candidate iRD genes and 196 ncRNAs...
April 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27583663/diversity-of-the-genes-implicated-in-algerian-patients-affected-by-usher-syndrome
#17
Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit
Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported. We studied the molecular bases of the disease in 18 unrelated Algerian patients by targeted-exome sequencing, and identified the causal biallelic mutations in all of them: 16 patients carried the mutations at the homozygous state and 2 at the compound heterozygous state. Nine of the 17 different mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously reported...
2016: PloS One
https://www.readbyqxmd.com/read/27344577/spectrum-of-dna-variants-for-non-syndromic-deafness-in-a-large-cohort-from-multiple-continents
#18
Denise Yan, Demet Tekin, Guney Bademci, Joseph Foster, F Basak Cengiz, Abhiraami Kannan-Sundhari, Shengru Guo, Rahul Mittal, Bing Zou, Mhamed Grati, Rosemary I Kabahuma, Mohan Kameswaran, Taye J Lasisi, Waheed A Adedeji, Akeem O Lasisi, Ibis Menendez, Marianna Herrera, Claudia Carranza, Reza Maroofian, Andrew H Crosby, Mariem Bensaid, Saber Masmoudi, Mahdiyeh Behnam, Majid Mojarrad, Yong Feng, Duygu Duman, Alex M Mawla, Alex S Nord, Susan H Blanton, Xue Z Liu, Mustafa Tekin
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida)...
August 2016: Human Genetics
https://www.readbyqxmd.com/read/27318125/a-combination-of-two-truncating-mutations-in-ush2a-causes-more-severe-and-progressive-hearing-impairment-in-usher-syndrome-type-iia
#19
Bas P Hartel, Maria Löfgren, Patrick L M Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J Kimberling, Cor W R J Cremers, Claes Möller, Ronald J E Pennings
OBJECTIVES: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations...
September 2016: Hearing Research
https://www.readbyqxmd.com/read/27186975/the-time-course-of-deafness-and-retinal-degeneration-in-a-kunming-mouse-model-for-usher-syndrome
#20
Lu Yao, Lei Zhang, Lin-Song Qi, Wei Liu, Jing An, Bin Wang, Jun-Hui Xue, Zuo-Ming Zhang
Usher syndrome is a group of autosomal recessive diseases characterized by congenital deafness and retinitis pigmentosa. In a mouse model for Usher syndrome, KMush/ush, discovered in our laboratory, we measured the phenotypes, characterized the architecture and morphology of the retina, and quantified the level of expression of pde6b and ush2a between postnatal (P) days 7, and 56. Electroretinograms and auditory brainstem response were used to measure visual and auditory phenotypes. Fundus photography and light microscopy were used to measure the architecture and morphology of the retina...
2016: PloS One
keyword
keyword
110618
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"