Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum
| Autor: | Caterina Cuppari, Celeste Casto, Roberto Chimenz, Andrea Accogli, Valeria Dipasquale, Vincenzo Salpietro, Gabriella Di Rosa, Federico Zara, Maria Concetta Cutrupi, Pasquale Striano, Antonella Riva, G Ceravolo, Antonella Gambadauro, Michele Iacomino, M D Ceravolo, Marcello Scala |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities QH301-705.5 Population Biology Compound heterozygosity KIF17 MAC spectrum coloboma congenital eye defects microphthalmia Microphthalmia Catalysis Inorganic Chemistry 03 medical and health sciences 0302 clinical medicine medicine Physical and Theoretical Chemistry Biology (General) education Molecular Biology Gene Exome QD1-999 Spectroscopy Genetics Coloboma education.field_of_study Anophthalmia Organic Chemistry General Medicine medicine.disease Phenotype eye diseases Computer Science Applications Chemistry 030104 developmental biology sense organs 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Molecular Sciences, Vol 22, Iss 4471, p 4471 (2021) International Journal of Molecular Sciences Volume 22 Issue 9 |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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