{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T18:49:37Z","timestamp":1791571777609,"version":"4.3.4"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To characterize the phenotype and genotype of a Chinese family with autosomal\u2010dominant retinitis pigmentosa (RP) accompanied by iris coloboma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The proband, a 34\u2010year\u2010old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full\u2010field electroretinography (ffERG). Genetic analyses were conducted through whole\u2010exome sequencing (WES) to screen for variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the <jats:italic>miR\u2010204<\/jats:italic> gene (n.37C&gt;T), a noncoding RNA gene, was identified in these three members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this third independent and the first Asian family, the existence of a <jats:italic>miR\u2010204<\/jats:italic> variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of <jats:italic>miR\u2010204<\/jats:italic> as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal\u2010dominant pattern, including in Chinese patients, <jats:italic>miR\u2010204<\/jats:italic> aberrations should be considered.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2481","type":"journal-article","created":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T07:26:15Z","timestamp":1718263575000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Retinitis pigmentosa with iris coloboma due to <i>miR\u2010204<\/i> gene variant in a Chinese family"],"prefix":"10.1002","volume":"12","author":[{"given":"Zhang","family":"Lei","sequence":"first","affiliation":[{"name":"Xi'an Key Laboratory of Digital Medical Technology of Ophthalmologic Imaging Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital)  Xi'an Shaanxi 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