当前位置： SCI文献检索 > OPHTHALMIC GENETICS期刊下所有文献 > Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Abstract：

INTRODUCTION:Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negative. We present the molecular findings of the Oxford phenotype-based NGS panels for genetic testing in IRD. METHODS:Results of 655 consecutive patients referred for phenotype-based panel testing over 54 months were analysed to assess diagnostic yield. RESULTS:Variants were identified in 450 patients (68.7%). The overall diagnostic yield from phenotype-based panels was 42.8%. The diagnostic yield was highest from panels representing distinct clinical phenotypes: Usher panel 90.9% and congenital stationary night blindness panel 75.0%. Retinitis pigmentosa/rod-cone dystrophy was the commonest presenting phenotype (n = 243) and Usher syndrome was the commonest presenting syndromic disease (n = 39). Patients presenting with late-onset (≥50 years) macular disease had a lower diagnostic yield (18.0%) compared with patients <50 years (24.2%). Additionally, a diagnostic yield of 1.8% was attributable to copy number variants. CONCLUSIONS:Phenotype-based genetic testing panels provide a targeted testing approach and reduce bioinformatics demand. The overall diagnostic yield achieved in this study reflects the wide range of phenotypes that were referred. This pragmatic approach provides a high yield for early-onset and clearly defined genetically determined disorders but clinical utility is not as clear for late-onset macular disorders. This phenotype-based panel approach is clinician-referrer orientated, and can be used as a front-end virtual panel, when whole genome sequencing is introduced into diagnostic services for IRD.

journal_name

Ophthalmic Genet

journal_title

Ophthalmic genetics

authors

Shah M,Shanks M,Packham E,Williams J,Haysmoore J,MacLaren RE,Németh AH,Clouston P,Downes SM

doi

10.1080/13816810.2020.1778736

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

331-337

issue

4

eissn

1381-6810

issn

1744-5094

journal_volume

41

pub_type

杂志文章

相关文献

OPHTHALMIC GENETICS文献大全
  • Neurofibromatosis type I and unilateral ophthalmic artery occlusion.

    abstract：:Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1076/opge.19.2.87.2322

    authors： Saatci AO,Saylam GS,Yasti ZO,Söylev M,Saatci I,Kavukçu S,Memişoğlu B

    更新日期：1998-06-01 00:00:00

  • Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.

    abstract：BACKGROUND:Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansion...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2018.1474367

    authors： Rao BS,Ansar S,Arokiasamy T,Sudhir RR,Umashankar V,Rajagopal R,Soumittra N

    更新日期：2018-08-01 00:00:00

  • Genetic susceptibility to hydroxychloroquine retinal toxicity.

    abstract：:Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity.Materials and Methods: Case-control study of patients...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2020.1747093

    authors： Mack HG,Kowalski T,Lucattini A,Symons RA,Wicks I,Hall AJ

    更新日期：2020-04-01 00:00:00

  • Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele.

    abstract：BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2016.1253104

    authors： Yilmaz S,Ardagil A,Akalin I,Altinel MG,Dag Y,Kurum E,Koyun E,Ari Yaylali S,Bayramlar H

    更新日期：2017-09-01 00:00:00

  • Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

    abstract：:A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810490902684

    authors： Quinn SM,Black GC,Biswas S,Clayton-Smith J,Lloyd IC

    更新日期：2004-12-01 00:00:00

  • Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development?

    abstract：:Objectives: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated wi...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2019.1622022

    authors： Gedvilaite G,Vilkeviciute A,Kriauciuniene L,Asmoniene V,Liutkeviciene R

    更新日期：2019-06-01 00:00:00

  • Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.

    abstract：BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2020.1786843

    authors： Li H,Li H,Yang L,Sun Z,Wu S,Sui R

    更新日期：2020-10-01 00:00:00

  • Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

    abstract：PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using marke...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1076/opge.22.4.241.2216

    authors： Kerrison JB,Giorda R,Lenart TD,Drack AV,Maumenee IH

    更新日期：2001-12-01 00:00:00

  • A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism.

    abstract：:A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the l...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810902988772

    authors： Guran S,Torun D,Mutlu FM,Uysal Y,Ugurel MS,Bahce M

    更新日期：2009-09-01 00:00:00

  • Long-term 12 year follow-up of X-linked congenital retinoschisis.

    abstract：PURPOSE:To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood. METHODS:Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2010.482555

    authors： Kjellström S,Vijayasarathy C,Ponjavic V,Sieving PA,Andréasson S

    更新日期：2010-09-01 00:00:00

  • Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

    abstract：PURPOSE:To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS:Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array followed by sequencing. RESULTS:The ...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2013.763995

    authors： Jalkh N,Guissart C,Chouery E,Yammine T,El Ali N,Farah HA,Mégarbané A

    更新日期：2014-03-01 00:00:00

  • Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.

    abstract：:Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic ab...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2020.1867755

    authors： Romano F,Dautaj A,Esposito RA,Bertelli M,Staurenghi G,Salvetti AP

    更新日期：2021-01-03 00:00:00

  • SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area.

    abstract：BACKGROUND:Age-related macular degeneration (ARMD), a progressive retinal disease, is responsible for an impaired central vision in about 180 million people worldwide. Current options for ARMD prevention and treatment are limited due to an incomplete understanding of disease etiopathogenesis. We aimed to test the hypot...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2016.1203442

    authors： Stanislovaitiene D,Zaliuniene D,Krisciukaitis A,Petrolis R,Smalinskiene A,Lesauskaite V,Tamosiunas A,Lesauskaite V

    更新日期：2017-05-01 00:00:00

  • Xq26.3 microdeletion in a male with Wildervanck Syndrome.

    abstract：BACKGROUND:Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluatio...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2013.766218

    authors： Abu-Amero KK,Kondkar AA,Alorainy IA,Khan AO,Al-Enazy LA,Oystreck DT,Bosley TM

    更新日期：2014-03-01 00:00:00

  • Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.

    abstract：PURPOSE:To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract. PATIENTS AND METHODS:Genome-wide association study (GWAS) of T2D patients with cataract, as graded by Lens Opacities Classification System (LOCS). A total of 109 T2D patients with cataract score equal to or above 10 designated...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2012.736590

    authors： Lin HJ,Huang YC,Lin JM,Liao WL,Wu JY,Chen CH,Chou YC,Chen LA,Lin CJ,Tsai FJ

    更新日期：2013-03-01 00:00:00

  • Association between diabetic retinopathy and interleukin-related gene polymorphisms: a machine learning aided meta-analysis.

    abstract：BACKGROUND:Diabetic retinopathy (DR) is a severe complication of diabetes and a common cause of visual loss in adults. We aimed to assess the correlation between IL gene-related SNPs and the incidence of DR and attempted to predict DR with combined mutation site detection. METHODS:A systematic search of databases was ...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2020.1747091

    authors： Sun X,Guo S

    更新日期：2020-06-01 00:00:00

  • Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

    abstract：:Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2019.1666414

    authors： Vedartham V,Sundaram S,Nair SS,Ganapathy A,Mannan A,Menon R

    更新日期：2019-08-01 00:00:00

  • Identification of a novel LCA6 mutation in an Emirati family.

    abstract：PURPOSE:To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. METHODS:The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NG...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2012.755552

    authors： Fakhratova M

    更新日期：2013-12-01 00:00:00

  • Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.

    abstract：PURPOSE:The crystallin family of proteins comprise the main structural proteins of the vertebrate lens and have been classified into alpha-, beta-, and gamma- families. Several of the beta-crystallin proteins have been detected in the retina where they are each localized to different compartments of rod and cone photor...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2010.486774

    authors： Sturgill GM,Bala E,Yaniglos SS,Peachey NS,Hagstrom SA

    更新日期：2010-09-01 00:00:00

  • Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.

    abstract：:A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810802697473

    authors： Flaherty MP,Balachandran C,Jamieson R,Engle EC

    更新日期：2009-06-01 00:00:00

  • Stickler's syndrome associated with congenital glaucoma.

    abstract：:A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, ...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1076/opge.19.1.55.2177

    authors： Ziakas NG,Ramsay AS,Lynch SA,Clarke MP

    更新日期：1998-03-01 00:00:00

  • Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.

    abstract：PURPOSE:Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosom...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1076/opge.20.3.173.2282

    authors： Bareil C,Hamel C,Pallarès-Ruiz N,Arnaud B,Demaille J,Claustres M

    更新日期：1999-09-01 00:00:00

  • Mutational analysis of the RB1 gene in Indian patients with retinoblastoma.

    abstract：:Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1076/opge.23.2.121.2211

    authors： Ata-ur-Rasheed M,Vemuganti Gk,Honavar Sg,Ahmed N,Hasnain Se,Kannabiran C

    更新日期：2002-06-01 00:00:00

  • Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.

    abstract：BACKGROUND:Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS:A female affected by Alström synd...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2015.1094493

    authors： Larrañaga-Fragoso P,Pastora N,Bravo-Ljubetic L,Peralta J,Abelairas-Gómez J

    更新日期：2016-12-01 00:00:00

  • Laboratory methods in ophthalmic genetics: obtaining DNA from patients.

    abstract：:DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surroundin...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章,评审

    doi：10.1076/opge.22.1.49.2240

    authors： Dickinson JL,Sale MM,Craig JE,Mackey DA

    更新日期：2001-03-01 00:00:00

  • High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

    abstract：PURPOSE:The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patie...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.1080/13816810.2020.1810284

    authors： Kubota D,Matsumoto K,Hayashi M,Oishi N,Gocho K,Yamaki K,Kobayakawa S,Igarashi T,Takahashi H,Kameya S

    更新日期：2020-12-01 00:00:00

  • Differences of the anterior segment parameters in children with down syndrome.

    abstract：PURPOSE:The study was undertaken to investigate whether anterior segment findings are different in children with Down syndrome (DS) to normal children and to focus on its clinical significance. METHODS:A cross-sectional case control study was conducted in a total of 38 children with DS and 42 healthy children. This is...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2013.789535

    authors： Aslan L,Aslankurt M,Aksoy A,Gümüşalan Y

    更新日期：2014-06-01 00:00:00

  • Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

    abstract：PURPOSE:To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS:This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosi...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2014.907920

    authors： Jardón J,Izquierdo NJ,Renta JY,García-Rodríguez O,Cadilla CL

    更新日期：2016-01-01 00:00:00

  • A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

    abstract：INTRODUCTION:Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. In addition, temporal bone anomalies, renal and ectodermal manifestatio...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2011.592176

    authors： Aliferis K,Stoetzel C,Pelletier V,Hellé S,Angioï-Duprez K,Vigneron J,Leheup B,Marion V,Dollfus H

    更新日期：2011-11-01 00:00:00

  • Superoxide dismutase gene polymorphisms in patients with age-related cataract.

    abstract：BACKGROUND:Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and m...

    journal_title：Ophthalmic genetics

    pub_type： 杂志文章

    doi：10.3109/13816810.2012.746377

    authors： Celojevic D,Nilsson S,Behndig A,Tasa G,Juronen E,Karlsson JO,Zetterberg H,Petersen A,Zetterberg M

    更新日期：2013-09-01 00:00:00