{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T12:17:46Z","timestamp":1762604266123,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T00:00:00Z","timestamp":1619308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 \u201cMAC spectrum\u201d. 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 &gt; T (p.Arg419Trp); c.2554C &gt; 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.<\/jats:p>","DOI":"10.3390\/ijms22094471","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T02:12:57Z","timestamp":1619316777000},"page":"4471","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9152-5571","authenticated-orcid":false,"given":"Antonella","family":"Riva","sequence":"first","affiliation":[{"name":"Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7421-0903","authenticated-orcid":false,"given":"Antonella","family":"Gambadauro","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Dipasquale","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celeste","family":"Casto","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Domenica","family":"Ceravolo","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Department of Paediatrics, Division of Medical Genetics, McGill University, Montreal, QC H3A 2R7, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Ceravolo","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Iacomino","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Cuppari","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Di Rosa","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Division of Child Neurology and Psychiatry, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Concetta","family":"Cutrupi","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi\u201d, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0132-7921","authenticated-orcid":false,"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Chimenz","sequence":"additional","affiliation":[{"name":"Department of Human Pathology in Adult and Developmental Age \u201cGaetano Barresi, Unit of Pediatric Nephrology and Dialysis, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G","article-title":"Online Mendelian Inheritance in Man (OMIM)","volume":"15","author":"Hamosh","year":"1999","journal-title":"Hum. 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