keyword
MENU ▼
Read by QxMD icon Read
search

USH2A

keyword
https://www.readbyqxmd.com/read/27880076/correlation-of-ultra-widefield-fundus-autofluorescence-patterns-with-the-underlying-genotype-in-retinal-dystrophies-and-retinitis-pigmentosa
#1
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
#2
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...
November 8, 2016: Retina
https://www.readbyqxmd.com/read/27802265/antisense-oligonucleotide-based-splice-correction-for-ush2a-associated-retinal-degeneration-caused-by-a-frequent-deep-intronic-mutation
#3
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
#4
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)...
September 14, 2016: 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
#5
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...
September 8, 2016: 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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27160483/advanced-diagnostic-genetic-testing-in-inherited-retinal-disease-experience-from-a-single-tertiary-referral-centre-in-the-uk-national-health-service
#10
K Khan, Ravinder Chana, Ali N, Genevieve Wright, A R Webster, A T Moore, M Michaelides
BACKGROUND/AIMS: In 2013, as part of our genetic investigation of patients with Inherited Retinal Disease, we utilised multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS) accredited laboratory. METHOD: The results of all multigene panel tests requested between 1.4.13 and 31.8.14 were retrospectively reviewed. All patients had been previously seen at Moorfields Eye Hospital, London, UK and diagnosed with an inherited retinal dystrophy after clinical examination and detailed retinal imaging...
May 10, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27014590/genomic-screening-of-abca4-and-array-cgh-analysis-underline-the-genetic-variability-of-greek-patients-with-inherited-retinal-diseases
#11
Maria Tsipi, Maria Tzetis, Konstantina Kosma, Marilita Moschos, Maria Braoudaki, Myrto Poulou, Emmanuel Kanavakis, Sofia Kitsiou-Tzeli
BACKGROUND: Retinal dystrophies are a clinically and genetically heterogeneous group of disorders which affect more than two million people worldwide. The present study focused on the role of the ABCA4 gene in the pathogenesis of hereditary retinal dystrophies (autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa) in patients of Greek origin. MATERIALS AND METHODS: Our cohort included 26 unrelated patients and their first degree healthy relatives...
June 2016: Meta Gene
https://www.readbyqxmd.com/read/26992781/molecular-genetics-of-cone-rod-dystrophy-in-chinese-patients-new-data-from-61-probands-and-mutation-overview-of-163-probands
#12
Li Huang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Wenmin Sun, Yan Xu, Wei Xin, Xiangming Guo, Qingjiong Zhang
Cone-rod dystrophy (CORD) is a common form of inherited retinal degeneration. Previously, we have conducted serial mutational analysis in probands with CORD either by Sanger sequencing or whole exome sequencing (WES). In the current study, variants in all genes from RetNet were selected from the whole exome sequencing data of 108 CORD probands (including 61 probands reported here for the first time) and were analyzed by multistep bioinformatics analysis, followed by Sanger sequencing and segregation validation...
May 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/26966640/efficacy-of-column-scatter-plots-for-presenting-retinitis-pigmentosa-phenotypes-in-a-japanese-cohort
#13
Ken Ogino, Akio Oishi, Maho Oishi, Norimoto Gotoh, Satoshi Morooka, Masako Sugahara, Tomoko Hasegawa, Manabu Miyata, Nagahisa Yoshimura
PURPOSE: We evaluated the efficacy of column scatter plots to describe genotype-phenotype correlations in a Japanese cohort with retinitis pigmentosa (RP). METHODS: Clinical records of 121 patients with RP with identified causative mutations were reviewed. Visual acuity, central and peripheral visual fields, electroretinography (ERG), lens status, and measurements of optical coherence tomography were evaluated according to causative genes using column scatter plots...
March 2016: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/26927203/visual-prognosis-in-ush2a-associated-retinitis-pigmentosa-is-worse-for-patients-with-usher-syndrome-type-iia-than-for-those-with-nonsyndromic-retinitis-pigmentosa
#14
Laurence H M Pierrache, Bas P Hartel, Erwin van Wijk, Magda A Meester-Smoor, Frans P M Cremers, Elfride de Baere, Julie de Zaeytijd, Mary J van Schooneveld, Cor W R J Cremers, Gislin Dagnelie, Carel B Hoyng, Arthur A Bergen, Bart P Leroy, Ronald J E Pennings, L Ingeborgh van den Born, Caroline C W Klaver
PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal, multicenter study. PARTICIPANTS: Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium...
May 2016: Ophthalmology
https://www.readbyqxmd.com/read/26879527/detecting-signatures-of-positive-selection-associated-with-musical-aptitude-in-the-human-genome
#15
Xuanyao Liu, Chakravarthi Kanduri, Jaana Oikkonen, Kai Karma, Pirre Raijas, Liisa Ukkola-Vuoti, Yik-Ying Teo, Irma Järvelä
Abilities related to musical aptitude appear to have a long history in human evolution. To elucidate the molecular and evolutionary background of musical aptitude, we compared genome-wide genotyping data (641 K SNPs) of 148 Finnish individuals characterized for musical aptitude. We assigned signatures of positive selection in a case-control setting using three selection methods: haploPS, XP-EHH and FST. Gene ontology classification revealed that the positive selection regions contained genes affecting inner-ear development...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26806561/panel-based-ngs-reveals-novel-pathogenic-mutations-in-autosomal-recessive-retinitis-pigmentosa
#16
Raquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H Lelieveld, Elena Aller, Miguel Angel Lopez-Martinez, Ma Isabel López-Molina, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Christian Gilissen, Jose M Millan, Almudena Avila-Fernandez, Carmen Ayuso
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP. In our study, an in-house gene panel comprising 75 known RP genes was used to analyze a cohort of 47 unrelated Spanish families pre-classified as autosomal recessive or isolated RP...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26654877/novel-grading-system-for-quantification-of-cystic-macular-lesions-in-usher-syndrome
#17
Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said, Jose Alain Sahel
BACKGROUND: To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A mutations. METHODS: Two readers evaluated 76 patients' (mean age 42 ± 14 years) data prospectively uploaded on Eurush database. OCT was used to obtain high quality cross-sectional images through the fovea. The CML was graded as none, mild, moderate or severe, depending on the following features set: subretinal fluid without clearly detectable CML boundaries; central macular thickness; largest diameter of CML; calculated mean of all detectable CML; total number of detectable CML; retinal layers affected by CML...
December 10, 2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/26629787/whole-ush2a-gene-sequencing-identifies-several-new-deep-intronic-mutations
#18
Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, Michel Koenig, Mireille Claustres, Anne-Françoise Roux
Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and most of these splicing alterations have been identified by transcript analysis, for instance, the first deep intronic mutation in USH2A, the gene most frequently involved in Usher syndrome type II (USH2). Unfortunately, analyzing USH2A transcripts is challenging and for 1.8%-19% of USH2 individuals carrying a single USH2A recessive mutation, a second mutation is yet to be identified. We have developed and validated a DNA next-generation sequencing approach to identify deep intronic variants in USH2A and evaluated their consequences on splicing...
February 2016: Human Mutation
https://www.readbyqxmd.com/read/26562361/targeted-capture-and-resequencing-of-1040-genes-reveal-environmentally-driven-functional-variation-in-grey-wolves
#19
Rena M Schweizer, Jacqueline Robinson, Ryan Harrigan, Pedro Silva, Marco Galverni, Marco Musiani, Richard E Green, John Novembre, Robert K Wayne
In an era of ever-increasing amounts of whole-genome sequence data for individuals and populations, the utility of traditional single nucleotide polymorphisms (SNPs) array-based genome scans is uncertain. We previously performed a SNP array-based genome scan to identify candidate genes under selection in six distinct grey wolf (Canis lupus) ecotypes. Using this information, we designed a targeted capture array for 1040 genes, including all exons and flanking regions, as well as 5000 1-kb nongenic neutral regions, and resequenced these regions in 107 wolves...
January 2016: Molecular Ecology
https://www.readbyqxmd.com/read/26559128/partial-ush2a-deletions-contribute-to-usher-syndrome-in-denmark
#20
Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B Møller
No abstract text is available yet for this article.
December 2015: European Journal of Human Genetics: EJHG
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"