Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

Author:

Shi Jie1,Tian Lu1,Sun Tengyang1,Zhang Xiao1,Xu Ke1,Xie Yue1,Peng Xiaoyan1,Tang Xin1,Jin Zi-Bing1,Li Yang1

Affiliation:

1. Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference32 articles.

1. Biallelic mutation of BEST1 causes a distinct retinopathy in humans;Burgess;Am J Hum Genet,2008

2. Bestrophin 1 and retinal disease;Johnson;Prog Retin Eye Res,2017

3. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium;Marmorstein;Proc Natl Acad Sci USA,2000

4. Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium;Marmorstein;Mol Vis,2015

5. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells;Milenkovic;Proc Natl Acad Sci USA,2015

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