FIGURE SUMMARY
Title

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

Authors
Riva, A., Gambadauro, A., Dipasquale, V., Casto, C., Ceravolo, M.D., Accogli, A., Scala, M., Ceravolo, G., Iacomino, M., Zara, F., Striano, P., Cuppari, C., Di Rosa, G., Cutrupi, M.C., Salpietro, V., Chimenz, R.
Source
Full text @ Int. J. Mol. Sci.
Figure 1

Family tree, KIF17 protein structure, and the clinico-radiological features of our siblings. (A) Pedigree from family. (B) KIF17 protein structure with domains and the two pathogenic variants found in our probands. (C) Clinico-radiological findings of Patient II-1. (C′) Image of eyes showing left microphthalmia at age. (C″) Brain MRI at age 7 months. Axial FLAIR images demonstrate bilateral focal posterior defects of the globes with vitreous herniation suggestive for bilateral posterior coloboma. In the left eye a fluid-density cist is also present (white arrow). (D) Clinico-radiological features of Patient II-2. (D′) Image of eyes showing left microphthalmia at age. (D″) Additional eye images taken at age. (D‴) Brain MRI at age 5 months. Axial T2-weighted image showing right “egg shaped” globe suggestive for posterior coloboma. In the left eye the “egg shape” is less deducible due to microphthalmia, as well as lens luxation.

Figure 2

(A) KIF17 gene expression in the different eye-related cell types based on the Human Protein Atlas (www.proteinatlas.org, accessed on 21 April 2021). (B) Multiple alignment showing complete conservation across species and KIF17 homolog of the residues affected by the variants identified in this study (these variants are highlighted in yellow). Human KIF17 (UniProt: Q9P2E2), Chimpanzee KIF17 (UniProt: H2PY89), Horse KIF17 (UniProt: F6VCL8), Cat KIF17 (UniProt: A0A2I2V0D2), Mouse KIF17 (UniProt: Q99PW8), Zebrafish KIF17 (UniProt: F1QV34).

Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Int. J. Mol. Sci.
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