Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Year: 2019
Type: article
Study design: Observational Study
Abstract: Purpose: in 187 families with Leber congenital amaurosis (LCA). Methods: gene, and intrafamilial cosegregation analysis if DNA was available. In silico analyses and splicing assay were used to evaluate the variants' pathogenicity. Results: , seven are novel associated with LCA, including five missense variants (c.124C>T, c.149T>C, c.340A>C, c.425A>G, and c.1399C>G) and two indel (insertions or deletions) variants (c.858+1delG and c.1181_1182insT). In vitro splicing assay was performed to evaluate the functional impact on RNA splicing of novel mutations if two of three in silico analyses were predicated to be non-pathogenic at the protein level. Among these 15 variants, 14 were classified as 'pathogenic variants,' and a variant (c.124C>T) was 'variants with uncertain significance' according to the standards and guidelines of the American College of Medical Genetics and Genomics. Conclusions: -related LCA in the Chinese population and potentially facilitates its clinical implementation.
Source: PubMed Central
Authors: Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2946656954