Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP...
| Publicado en: | BioMed Research International Vol. 2016; pp. 1 - 15 |
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| Autores principales: | , , , , , , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
12/29/2016
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=120459233&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 120459233 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 12/29/2016 vid: 2016 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 120459233 120459233 120459233 10.1155/2016/6341870 120459233 ppf: 1 ppct: 14 formats: fmt: @attributes: type: P tig: atl: Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. aug: au: Bernardis, Isabella Chiesi, Laura Tenedini, Elena Artuso, Lucia Percesepe, Antonio Artusi, Valentina Simone, Maria Luisa Manfredini, Rossella Camparini, Monica Rinaldi, Chiara Ciardella, Antonio Graziano, Claudio Balducci, Nicole Tranchina, Antonia Cavallini, Gian Maria Pietrangelo, Antonello Marigo, Valeria Tagliafico, Enrico affil: Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy sug: subj: Retinal Diseases Familial and Genetic Sequence Analysis Methods Genetic Screening Methods Retinal Diseases Diagnosis Human Italy Retinitis Pigmentosa Diagnosis Eye Diseases, Hereditary Diagnosis Macular Degeneration Diagnosis Usher's Syndrome Diagnosis Ophthalmology Genetic Counseling Mutation Descriptive Statistics Cost Benefit Analysis Pathology, Molecular Phenotype Male Female Adolescence Adult Middle Age Child, Preschool Child Aged Aged, 80 and Over Academic Medical Centers Data Analysis Software Funding Source Adolescent: 13-18 years Adult: 19-44 years Middle Aged: 45-64 years Child, Preschool: 2-5 years Child: 6-12 years Aged: 65+ years Aged, 80 & over Male Female ab: To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP), Leber Congenital Amaurosis (LCA), Stargardt Disease (STGD), Best Macular Dystrophy (BMD), Usher Syndrome (USH), and other IRDs with undefined clinical diagnosis. Participants underwent a complete ophthalmologic examination followed by genetic counseling. A custom AmpliSeq™ panel of 72 IRD-related genes was designed for the analysis and tested using Ion semiconductor Next-Generation Sequencing (NGS). Potential disease-causing mutations were identified in 59.1% of probands, comprising mutations in 16 genes. The highest diagnostic yields were achieved for BMD, LCA, USH, and STGD patients, whereas RP confirmed its high genetic heterogeneity. Causative mutations were identified in 17.6% of probands with undefined diagnosis. Revision of the initial diagnosis was performed for 9.6% of genetically diagnosed patients. This study demonstrates that NGS represents a comprehensive cost-effective approach for IRDs molecular diagnosis. The identification of the genetic alterations underlying the phenotype enabled the clinicians to achieve a more accurate diagnosis. The results emphasize the importance of molecular diagnosis coupled with clinic information to unravel the extensive phenotypic heterogeneity of these diseases. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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