Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.

In conclusion: Most (5/9,55.6%) of the causative mutations were frameshift, and nearly half (4/9, 44.4%) of the mutations were de novo. Most (8/9, 88.9%) patients with KIF11 mutations showed typical ocular manifestations of severe FEVR. Majority (6/9, 66.7%) of the probands had a KIF11 mutation and were detected to have microcephaly. Seven of these harbored KIF11 mutations detected to be novel.
PMID: 32730767 [PubMed - as supplied by publisher]

Source: Experimental Eye Research - July 26, 2020 Category: Opthalmology Authors: Chen C, Sun L, Li S, Huang L, Zhang T, Wang Z, Yu B, Luo X, Ding X Tags: Exp Eye Res Source Type: research