PUBLICATION
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.
- ID
- ZDB-PUB-210501-27
- Date
- 2021
- Source
- International Journal of Molecular Sciences 22(9): (Journal)
- Registered Authors
- Keywords
- KIF17, MAC spectrum, coloboma, congenital eye defects, microphthalmia
- MeSH Terms
-
- Child
- Coloboma/genetics*
- Female
- Genetic Variation
- Humans
- Infant
- Kinesins/genetics*
- Male
- Microphthalmos/genetics*
- Pedigree
- PubMed
- 33922911 Full text @ Int. J. Mol. Sci.
Citation
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. (2021) Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum. International Journal of Molecular Sciences. 22(9):.
Abstract
Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called "MAC spectrum". The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-based, ATP-dependent, motor protein that is pivotal for outer segment development and disc morphogenesis in different animal models, including mice and zebrafish. In this report, we describe a Sicilian family with two siblings affected with congenital coloboma, microphthalmia, and a mild delay of motor developmental milestones. Genomic DNA from the siblings and their unaffected parents was sequenced with a clinical exome that revealed compound heterozygous variants in the KIF17 gene (NM_020816.4: c.1255C > T (p.Arg419Trp); c.2554C > T (p.Arg852Cys)) segregating with the MAC spectrum phenotype of the two affected siblings. Variants were inherited from the healthy mother and father, are present at a very low-frequency in genomic population databases, and are predicted to be deleterious in silico. Our report indicates the potential co-segregation of these biallelic KIF17 variants with microphthalmia and coloboma, highlighting a potential conserved role of this gene in eye development across different species.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping