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Usher syndrome

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https://www.readbyqxmd.com/read/27872819/diagnosis-of-a-mild-peroxisomal-phenotype-with-next-generation-sequencing
#1
Meredith J Ventura, Dianna Wheaton, Mingchu Xu, David Birch, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Annette E Whitney, Richard O Jones, Ann B Moser, Rui Chen, Michael F Wangler
Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#2
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#3
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27836652/intracranial-vessel-wall-imaging-for-evaluation-of-steno-occlusive-diseases-and-intracranial-aneurysms
#4
REVIEW
Waleed Brinjikji, Mahmud Mossa-Basha, John Huston, Alejandro A Rabinstein, Giuseppe Lanzino, Vance T Lehman
Cerebrovascular diseases have traditionally been classified, diagnosed and managed based on their luminal characteristics. However, over the past several years, several advancements in MRI techniques have ushered in high-resolution vessel wall imaging (HR-VWI), enabling evaluation of intracranial vessel wall pathology. These advancements now allow us to differentiate diseases which have a common angiographic appearance but vastly different natural histories (i.e. moyamoya versus atherosclerosis, reversible cerebral vasoconstriction syndrome versus vasculitis, stable versus unstable intracranial aneurysms)...
November 8, 2016: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/27828912/clinical-presentation-and-disease-course-of-usher-syndrome-because-of-mutations-in-myo7a-or-ush2a
#5
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
#6
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/27771768/advances-in-genetic-hearing-loss-cib2-gene
#7
Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak
Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the speech ability during the early childhood and for a proper functioning in the society. Hearing loss is one of the most frequent disabilities that affect human senses. It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the recently identified genes, involved in HI pathogenesis. CIB2 is widely expressed in various human and animal tissues, mainly in skeletal muscle, nervous tissue, inner ear, and retina...
October 22, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27759911/hearing-aid-fitting-for-visual-and-hearing-impaired-patients-with-usher-syndrome-type-iia
#8
Bas P Hartel, Martijn J H Agterberg, Ad F Snik, Henricus P M Kunst, A John V Opstal, Arjan J Bosman, Ronald J E Pennings
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localization abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localization. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification program...
October 19, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27757761/myosins-domain-organisation-motor-properties-physiological-roles-and-cellular-functions
#9
Thomas A Masters, John Kendrick-Jones, Folma Buss
Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer...
October 19, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/27743452/the-combination-of-vestibular-impairment-and-congenital-sensorineural-hearing-loss-predisposes-patients-to-ocular-anomalies-including-usher-syndrome
#10
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27729122/compound-heterozygous-myo7a-mutations-segregating-usher-syndrome-type-2-in-a-han-family
#11
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27683224/antisense-oligonucleotides-delivered-to-the-amniotic-cavity-in-utero-modulate-gene-expression-in-the-postnatal-mouse
#12
Frederic F Depreux, Lingyan Wang, Han Jiang, Francine M Jodelka, Robert F Rosencrans, Frank Rigo, Jennifer J Lentz, John V Brigande, Michelle L Hastings
Congenital diseases account for a large portion of pediatric illness. Prenatal screening and diagnosis permit early detection of many genetic diseases. Fetal therapeutic strategies to manage disease processes in utero represent a powerful new approach for clinical care. A safe and effective fetal pharmacotherapy designed to modulate gene expression ideally would avoid direct mechanical engagement of the fetus and present an external reservoir of drug. The amniotic cavity surrounding the fetus could serve as an ideal drug reservoir...
November 16, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27633571/severe-early-onset-retinitis-pigmentosa-in-a-moroccan-patient-with-heimler-syndrome-due-to-novel-homozygous-mutation-of-pex1-gene
#13
Ilham Ratbi, Imane Cherkaoui Jaouad, Hamza Elorch, Nada Al-Sheqaih, Mustapha Elalloussi, Jaber Lyahyai, Amina Berraho, William G Newman, Abdelaziz Sefiani
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27631835/cdh23-related-hearing-loss-a-new-genetic-risk-factor-for-semicircular-canal-dehiscence
#14
Kathryn Y Noonan, Jack Russo, Jun Shen, Heidi Rehm, Sara Halbach, Einar Hopp, Sarah Noon, Jacqueline Hoover, Clifford Eskey, James E Saunders
OBJECTIVE: To investigate the prevalence and relative risk of semicircular canal dehiscence (SCD) in pediatric patients with CDH23 pathogenic variants (Usher syndrome or non-syndromic deafness) compared with age-matched controls. STUDY DESIGN: Retrospective cohort study. SETTING: Multi-institutional study. PATIENTS: Pediatric patients (ages 0-5 years) were compared based on the presence of biallelic pathogenic variants in CDH23 with pediatric controls who underwent computed tomography (CT) temporal bone scan for alternative purposes...
September 14, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27627988/cep78-is-mutated-in-a-distinct-type-of-usher-syndrome
#15
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
BACKGROUND: Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20-30% of patients. In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome. METHODS: Ophthalmic examinations and hearing tests were performed on patients with Usher syndrome in two consanguineous families...
September 14, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27588452/bi-allelic-truncating-mutations-in-cep78-encoding-centrosomal-protein-78-cause-cone-rod-degeneration-with-sensorineural-hearing-loss
#16
Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben-Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon
Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss (arCRD-SNHL). Homozygosity mapping followed by whole-exome sequencing (WES) and founder mutation screening revealed two truncating rare variants (c.893-1G>A and c.534delT) in CEP78, which encodes centrosomal protein 78, in six individuals of Jewish ancestry with CRD and SNHL...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27588451/mutations-in-cep78-cause-cone-rod-dystrophy-and-hearing-loss-associated-with-primary-cilia-defects
#17
Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre P Moulin, Frans P M Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K Tsilimbaris, Sten Andréasson, Carlo Rivolta
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency of central vision. After exome analysis of a cohort of individuals with CRD, we identified biallelic mutations in the orphan gene CEP78 in three subjects from two families: one from Greece and another from Sweden...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27583663/diversity-of-the-genes-implicated-in-algerian-patients-affected-by-usher-syndrome
#18
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/27511347/ophthalmic-pathologies-in-female-subjects-with-bilateralcongenital-sensorineural-hearing-loss
#19
Mehmet Talay Köylü, Gökçen Gökçe, Güngor Sobaci, Fahrettin Güven Oysul, Dorukcan Akincioğlu
BACKGROUND/AIM: The high prevalence of ophthalmologic pathologies in hearing-disabled subjects necessitates early screening of other sensory deficits, especially visual function. The aim of this study is to determine the frequency and clinical characteristics of ophthalmic pathologies in patients with congenital bilateral sensorineural hearing loss (SNHL). MATERIALS AND METHODS: This descriptive study is a prospective analysis of 78 young female SNHL subjects who were examined at a tertiary care university hospital with a detailed ophthalmic examination, including electroretinography (ERG) and visual field tests as needed...
2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27460420/an-innovative-strategy-for-the-molecular-diagnosis-of-usher-syndrome-identifies-causal-biallelic-mutations-in-93-of-european-patients
#20
Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell Sampol, Maria Antonia Claveria, Jaume Catala Mora, Shzeena Dad, Lisbeth B Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José-Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence of vestibular dysfunction, and the age of onset of the retinitis pigmentosa. A total of 10 causal genes, 6 for USH1, 3 for USH2, and 1 for USH3, and an USH2 modifier gene, have been identified. A robust molecular diagnosis is required not only to improve genetic counseling, but also to advance gene therapy in USH patients...
July 27, 2016: European Journal of Human Genetics: EJHG
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