{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T10:52:15Z","timestamp":1788519135799,"version":"build-2803163510"},"reference-count":69,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Iten-Kohaut Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum, characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement. The genetic basis of PA and related syndromes are complex and incompletely understood. This study investigates novel genetic variants and their clinical impact in two unrelated individuals diagnosed with PA spectrum disorder. Whole-exome sequencing (WES), long-range PCR, and breakpoint analysis were applied to identify pathogenic variants. In the first patient, a heterozygous ~1.6 Mb deletion was detected, spanning the genes PEX2 and ZFHX4 (GRCh37 chr8:g.76760782_78342600del). The second patient carried a heterozygous FOXC1 variant (NM_001453.3:c.310A&gt;G), classified as likely pathogenic. Both variants were confirmed by Sanger sequencing and considered de novo, as they were not present in the biological parents. Clinical evaluations revealed phenotypic variability, with the first patient displaying both ocular and systemic anomalies as in a Peters plus-like syndrome phenotype, while the second patient had isolated ocular manifestations as in a PA type 1 phenotype. These findings expand the genetic landscape of PA, underscoring the importance of comprehensive genomic analysis in subclassifying ASD disorders. Further studies are needed to elucidate the functional consequences of these variants and improve diagnostic and therapeutic strategies.<\/jats:p>","DOI":"10.3390\/ijms26136454","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T08:58:23Z","timestamp":1751878703000},"page":"6454","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4420-4451","authenticated-orcid":false,"given":"Flora","family":"Delas","sequence":"first","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"},{"name":"Department of Ophthalmology, University Hospital of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0965-0539","authenticated-orcid":false,"given":"Samuel","family":"Koller","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9906-8739","authenticated-orcid":false,"given":"Jordi","family":"Maggi","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Maspoli","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Kurmann","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Lang","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0370-3815","authenticated-orcid":false,"given":"Wolfgang","family":"Berger","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"},{"name":"Neuroscience Center Z\u00fcrich (ZNZ), University and ETH Zurich, 8006 Zurich, Switzerland"},{"name":"Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, 8006 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6298-615X","authenticated-orcid":false,"given":"Christina","family":"Gerth-Kahlert","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland"},{"name":"Department of Ophthalmology, University Hospital of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Thanikachalam, S., Hodapp, E., Chang, T.C., Swols, D.M., Cengiz, F.B., Guo, S., Zafeer, M.F., Seyhan, S., Bademci, G., and Scott, W.K. 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