Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

Abstract Background Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy presenting remarkable genetic heterogeneity. Genetic annotations would help with better clinical assessments and benefit gene therapy, and therefore should be recommended for RP patients. This report...

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Bibliographic Details
Main Authors: Xue Chen, Xunlun Sheng, Yani Liu, Zili Li, Xiantao Sun, Chao Jiang, Rui Qi, Shiqin Yuan, Xuhui Wang, Ge Zhou, Yanyan Zhen, Ping Xie, Qinghuai Liu, Biao Yan, Chen Zhao
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Journal of Translational Medicine
Subjects:
Retinitis pigmentosa
Genetic heterogeneity
Next generation sequencing
Mutation
OFD1
C8ORF37
Online Access:http://link.springer.com/article/10.1186/s12967-018-1522-7

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http://link.springer.com/article/10.1186/s12967-018-1522-7

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