{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:40:03Z","timestamp":1748119203699,"version":"3.41.0"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (<jats:italic toggle=\"yes\">PAX6<\/jats:italic>), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent. Sanger sequencing of PAX6 coding exons or exome sequencing was performed on genomic DNA from venous blood samples. Variants in <jats:italic toggle=\"yes\">PAX6<\/jats:italic> were identified in the four patients. Two variants are recurrent single-nucleotide substitutions \u2013 one is a substitution found in a patient with bilateral aniridia, whereas the other is a splice variant in a patient with nystagmus and neuroblastoma. The other two variants are novel and found in two patients with isolated aniridia. Both are small duplications that are predicted to lead to premature termination. For the recurrent variants, the comparison of phenotypes for patients with identical variants would shed light on the mechanisms of pathogenesis, and the discovery of two novel variants expands the spectrum of <jats:italic toggle=\"yes\">PAX6<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000487","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T12:15:49Z","timestamp":1709640949000},"page":"63-68","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia"],"prefix":"10.1097","volume":"33","author":[{"given":"Jeannette","family":"Goh","sequence":"first","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"},{"name":"Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical 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