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Article

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.

PloS one - 1 Jan 2020

Feng Xue, Wei Tianying, Sun Junhui, Luo Yuqin, Huo Yanan, Yu Ping, Chen Jiao, Wei Xiaoming, Qi Ming, Ye Yinghui

Abstract excerpt

Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%-21% of all LCA cases. In this study, one family with LCA1 was recruited from China. A combination of next generation sequencing and Sanger sequencing was used to screen for disease-causing...

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PMID: 32255808
DOI: 10.1371/journal.pone.0231115
PMCID: PMC7138296

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