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Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR) by William Carrera; Caleb Ng; Caroline Desler; J. Michael Jumper; Anita Agarwal is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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

Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: 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 in silico. Results: Eight mutations were identified amongst the 7 patients, that included 4 FZD4 mutations and 4 LRP5 mutations. Four novel mutations were identified, two in FZD4 (c.615delC, p.Y206MfsX34) and (c.964A>T, p.I322F), and two in LRP5 (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. Conclusion: These findings expand the mutation spectrum of FZD4 and LRP5.

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

Author

William Carrera; Caleb Ng; Caroline Desler; J. Michael Jumper; Anita Agarwal

Publisher

Informa plc; Informa UK (Taylor & Francis); Taylor & Francis; Swets & Zeitlinger Publishers; Informa UK Limited (ISSN 1381-6810)

Published

2020

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)