Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

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• 作者：Li Zhao ; Feng Wang ; Hui Wang ; Yumei Li ; Sharon Alexander ; Keqing Wang…
• 刊名：Human Genetics
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：134
• 期：2
• 页码：217-230
• 全文大小：353 KB
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  12. Bharadwaj AK, Kasztejna JP, Huq S, Bers
• 作者单位：Li Zhao (1) (2)
  Feng Wang (2) (3)
  Hui Wang (2) (3)
  Yumei Li (2) (3)
  Sharon Alexander (4)
  Keqing Wang (2) (3)
  Colin E. Willoughby (5)
  Jacques E. Zaneveld (2) (3)
  Lichun Jiang (2) (3)
  Zachry T. Soens (2) (3)
  Philip Earle (4)
  David Simpson (4)
  Giuliana Silvestri (4)
  Rui Chen (1) (2) (3)
  
  1. Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA
  2. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
  3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
  4. Centre for Experimental Medicine, Queen’s University Belfast, Clinical ICS-A, Belfast, BT12 6BA, UK
  5. Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L69 3GA, UK
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Internal Medicine
  Metabolic Diseases
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1203

文摘

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for disease characterization and clinical prognoses. A retinal capture panel that enriches 186 known retinal disease genes, including 55 known RP genes, was developed. Targeted next-generation sequencing was performed for a cohort of 82 unrelated RP cases from Northern Ireland, including 46 simplex cases and 36 familial cases. Disease-causing mutations were identified in 49 probands, including 28 simplex cases and 21 familial cases, achieving a solving rate of 60?%. In total, 65 pathogenic mutations were found, and 29 of these were novel. Interestingly, the molecular information of 12 probands was neither consistent with their initial inheritance pattern nor clinical diagnosis. Further clinical reassessment resulted in a refinement of the clinical diagnosis in 11 patients. This is the first study to apply next-generation sequencing-based, comprehensive molecular diagnoses to a large number of RP probands from Northern Ireland. Our study shows that molecular information can aid clinical diagnosis, potentially changing treatment options, current family counseling and management.