Molecular characterization of KIF11 variants in Familial Exudative Vitreoretinopathy

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Authors

Konstantinos Koustas, Oakland University William Beaumont School of Medicine Medical Student
Kenneth P. Mitton
Wendy Dailey
Kimberly A. Drenser, Corewell Health East

Description

Pediatric retinal diseases including Familial exudative vitreoretinopathy (FEVR) and Norrie Disease are linked to mutations in Wnt signaling network genes like FZD4, LRP5, TSPAN12, and NDP (see Figure-1). Active Norrin signaling is crucial for the normal growth and proliferation of developing retinal vasculature. Similarly, the absence of KIF11's kinesin activity can hinder the growth and proliferation of retinal vasculature, leading to peripheral avascular neural retina. According to the UniProt database there are about 41 disease causing variants for KIF11, and 17 specifically associated with FEVR. Nextgeneration sequencing was employed to sequence 76 subjects, aiming to identify novel variants to broaden the spectrum of Kif11 variants and gain deeper insights into the mechanism of pathogenicity.

Publication Date

5-2024

Keywords

retinal diseases, renal, pediatric

Disciplines

Ophthalmology

Recommended Citation

Koustas K, Mitton KP, Dailey W, Drenser KA. Molecular characterization of KIF11 variants in familial exudative vitreoretinopathy. Poster presented at: Oakland University William Beaumont School of Medicine Embark Capstone Colloquium; 2024 May; Rochester Hills, MI.

Comments

The Embark Capstone Colloquium at the Oakland University William Beaumont School of Medicine, Rochester Hills, MI, May, 2024.