A novel < em > CEP290 < /em > disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing

CONCLUSIONS: Our report provided a new mutation to the spectrum of CEP290-related diseases. The data suggested that the c.3310-1_3313delGCTTA mutation affects the CEP290 mRNA splicing and the CEP290 protein function. This valuable information is important for future studies on the mRNA splicing of CEP290 and the pathogenesis of CEP290-related diseases.PMID:34809537 | DOI:10.1080/13816810.2021.2004431

Source: Ophthalmic Genetics - November 23, 2021 Category: Opthalmology Authors: Bin-Bin Chen Yi Zhai Ya-Nan Huo Shuo Yang Zhi-Yong Zhang Source Type: research