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Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant
  1. Junting Huang1,
  2. Jiewen Fu2,
  3. Shangyi Fu3,4,
  4. Lisha Yang2,
  5. Kailai Nie1,
  6. Chengxia Duan5,
  7. Jingliang Cheng2,
  8. Yumei Li4,
  9. Hongbin Lv5,
  10. Rui Chen4,
  11. Longqian Liu1,
  12. Junjiang Fu2
  1. 1 Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China
  2. 2 Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, China
  3. 3 The Honors College, University of Houston, Houston, Texas, USA
  4. 4 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
  5. 5 Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, China
  1. Correspondence to Dr Junjiang Fu, Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China; fujunjiang{at}hotmail.com; LiuLongqian, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 15651, China; b.q15651{at}hotmail.com; Dr Rui Chen, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; ruichen{at}bcm.edu; Dr Hongbin Lv, Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China; oculistlvhongbin{at}163.com

Footnotes

  • JH, JF and SF are Co-first authors.

  • Contributors JF, RC and HL: idea, project design and concept of the paper. JiF, JF, JC, SF and LY: DNA extraction, RNA extraction, PCR, RT-PCR, bioinformatic analysis, Sanger sequencing and data analysis. RC and YL: NGS analysis. JH, LL, HL, KN and CD: clinical patient recruitment and clinical assessment. JH: metabolic disorder analysis. JF and SF: manuscript writing. JF, LL and HL: manuscript revision.

  • Funding This work was supported in part by the National Natural Science Foundation of China (30371493, 31701087, 81172049 and 81672887), and the Joint Research Foundation of Luzhou City and Southwest Medical University (2018).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The study protocol was approved by the ethical committees of Southwest Medical University/Sichuan University (Luzhou, China), and all procedures adhered to the tenets of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • JH, JF and SF are Co-first authors.

  • Contributors JF, RC and HL: idea, project design and concept of the paper. JiF, JF, JC, SF and LY: DNA extraction, RNA extraction, PCR, RT-PCR, bioinformatic analysis, Sanger sequencing and data analysis. RC and YL: NGS analysis. JH, LL, HL, KN and CD: clinical patient recruitment and clinical assessment. JH: metabolic disorder analysis. JF and SF: manuscript writing. JF, LL and HL: manuscript revision.

  • Funding This work was supported in part by the National Natural Science Foundation of China (30371493, 31701087, 81172049 and 81672887), and the Joint Research Foundation of Luzhou City and Southwest Medical University (2018).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The study protocol was approved by the ethical committees of Southwest Medical University/Sichuan University (Luzhou, China), and all procedures adhered to the tenets of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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