Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.

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ID: 18206
2014
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Abstract
Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.
Reference Key
wu2014wholebiomed Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Wu, Juan;Chen, Lijia;Tam, Oi Sin;Huang, Xiu-Feng;Pang, Chi-Pui;Jin, Zi-Bing;
Journal BioMed research international
Year 2014
DOI
10.1155/2014/302487
URL
Keywords Keywords not found

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