Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)

Ophthalmic Genetics
Satoshi OmotoYasuo Ueoka

Abstract

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by impaired vascularization of parts of the peripheral retina. Autosomal dominant FEVR (adFEVR), a major form of FEVR and assigned to chromosome 11q13-23 (EVR1) locus, is caused by deletion mutations in the C- terminal region of the frizzled-4 (FZD4) gene. This paper describes the clinical phenotype of adFEVR in two Japanese families with two different mutations in the FZD4 gene. We encountered three Japanese patients with adFEVR and studied them using mutation analysis of the FZD4 gene with PCR, sequencing, and a restriction enzyme digestion. Two previously unreported missense mutations, p.H69Y and p.C181R, were identified in the N-terminal extra- cellular region of two of the patients. This region was highly conserved among other vertebrate species and FZD family members, unlike the C-terminal region. Co-segregation analysis revealed that all affected individuals carried one of these mutations, while unaffected individuals did not. The mutations were not detected in normal individuals (n=120). The affected individuals had mild to severe retinal abnormalities. FZD4 mutations in either the N- or C-terminal region underlie adFEVR, which indicates ...Continue Reading

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Citations

Jun 19, 2016·BMC Ophthalmology·Ganeswara Rao MusadaInderjeet Kaur
Mar 15, 2006·Nature Reviews. Genetics·Ryan R BrinkmanMark E Samuels
Nov 15, 2017·Ophthalmic Genetics·Hiroyuki KondoKoichiro Higasa
Nov 20, 2018·Investigative Ophthalmology & Visual Science·Jia-Kai LiJing Li
Jan 2, 2020·Molecular Medicine·Reham M Milhem, Bassam R Ali
Nov 27, 2018·Molecular Genetics & Genomic Medicine·Jingjing LiuPeiquan Zhao

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