10
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      Are you tired of sifting through news that doesn't interest you?
      Personalize your Karger newsletter today and get only the news that matters to you!

      Sign up

      • Record: found
      • Abstract: found
      • Article: found

      Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing

      research-article

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Purpose: To investigate genetic mutations in Korean patients with Stargardt disease (STGD) using exome sequencing, and to analyze the correlations between genetic mutations and clinical phenotypes. Methods: Peripheral venous blood was obtained from 24 clinically diagnosed Korean STGD patients, followed by extraction of genomic DNAs. Using exome sequencing we investigated gene mutations for the adenosine triphosphate-binding cassette, subfamily A, member 4 (ABCA4) elongation of very-long-chain fatty acids 4 (ELOVL4), and prominin 1 (PROM1), and confirmed gene mutations by the direct sequencing of polymerase chain reaction products. Results: ABCA4 mutations were confirmed in 17 of 24 patients, and 12 novel mutations were identified. ELOVL4 and PROM1 gene mutations were not identified in this study. We also identified 16 previously reported mutations related to STGD1. In patients whose disease symptoms occurred before 20 years of age, visual acuity was poorer and atrophic flecks were more frequently found. In addition, more ABCA4 mutations were found in patients who had choroidal silence or atrophic flecks. Conclusions: Novel ABCA4 gene mutations were found in Korean patients with STGD1. This study will facilitate better understanding of the relationships between ABCA4 gene mutations and clinical symptoms in Korean patients.

          Related collections

          Author and article information

          Journal
          OPH
          Ophthalmologica
          10.1159/issn.0030-3755
          Ophthalmologica
          S. Karger AG
          0030-3755
          1423-0267
          2019
          December 2018
          04 July 2018
          : 241
          : 1
          : 38-48
          Affiliations
          [_a] aDepartment of Ophthalmology, CHA Bundang Medical Center, CHA University College of Medicine, Seongnam, Republic of Korea
          [_b] bGenetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Republic of Korea
          [_c] cDepartment of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Suwon, Republic of Korea
          Author notes
          *Won Kyung Song, MD, Department of Ophthalmology, CHA University, # 351 Yatap-dong, Bundang-gu, Seongnam, Gyeonggi-do 463-712 (South Korea), E-Mail songwkmd@hanmail.net, , Sung Han Shim, PhD, Department of Biomedical Science, College of Life Science, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam, Gyeonggi-do 13488 (South Korea), E-Mail shshim@cha.ac.kr
          Article
          490073 Ophthalmologica 2019;241:38–48
          10.1159/000490073
          29975949
          e31706e3-b716-4c4c-9af0-f59fc91316e5
          © 2018 S. Karger AG, Basel

          Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

          History
          : 14 February 2018
          : 09 May 2018
          Page count
          Figures: 6, Tables: 4, Pages: 11
          Categories
          Research Article

          Vision sciences,Ophthalmology & Optometry,Pathology
          Targeted exome sequencing,Korean patients,Stargardt disease, ABCA4 mutation

          Comments

          Comment on this article