Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.

ABSTRACT:

Purpose

To screen RPE65 in 187 families with Leber congenital amaurosis (LCA).

Methods

Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was available. In silico analyses and splicing assay were used to evaluate the variants' pathogenicity.

Results

Genetic analysis revealed 15 mutations in RPE65 in 14 pedigrees, including one splice-site mutation, one frameshift mutation, three nonsense mutations, and ten missense mutations. Of the mutations identified in RPE65, 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.85

SUBMITTER: Zhong Z 

PROVIDER: S-EPMC6441358 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature