Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)

: To report novel mutations in the and , associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. : In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were identified. C...

Full description

Saved in:
Bibliographic Details
Published in:Ophthalmic genetics 2021-04, Vol.42 (2), p.200-203
Main Authors: Carrera, William, Ng, Caleb, Desler, Caroline, Jumper, J Michael, Agarwal, Anita
Format: Article
Language:English
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:: To report novel mutations in the and , associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. : In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were identified. Comprehensive ophthalmic examination and direct DNA sequencing of FEVR-associated genes were performed in all patients. Identified sequence variants were analyzed . : Eight mutations were identified amongst the 7 patients, that included 4 mutations and 4 mutations. Four novel mutations were identified, two in (c.615delC, p.Y206MfsX34) and (c.964A>T, p.I322F), and two in (c.2585A>T, p.D862V) and (c.1412 + 1 G > A, splice donor). A broad phenotypic spectrum was noted and no clear genotypic-phenotypic correlation was observed. : These findings expand the mutation spectrum of and .
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810.2020.1855664