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The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia-associated keratopathy, which can lead to severely impaired vision or blindness. The genetic basis of aniridia has been the subject of numerous studies, leading to the development of innovative therapeutic options based on\n                      <jats:italic>PAX6<\/jats:italic>\n                      nonsense mutations. Specific knowledge of the genetics of aniridia has become increasingly important. To report the clinical features, elucidate the genetic etiology, and reveal the mutational spectrum of congenital aniridia in the Chinese population, sixty patients with congenital aniridia from 51 families were recruited. Candidate genes associated with developmental eye diseases were identified and analyzed using panel-based next-generation sequencing (NGS), and mutations were confirmed through polymerase chain reaction and Sanger sequencing. Multiplex ligation probe amplification (MLPA) of\n                      <jats:italic>PAX6<\/jats:italic>\n                      and\n                      <jats:italic>FOXC1<\/jats:italic>\n                      was performed to detect copy number variations in the patients without intragenic mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Clinical examination revealed complete iris hypoplasia in 58 patients and partial iris hypoplasia in two patients. Additionally, two patients were diagnosed with Wilms\u2019 tumor-aniridia-genital anomalies-retardation syndrome and nephroblastoma. By combining panel-based NGS and MLPA, 43 intragenic mutations or deletions of\n                      <jats:italic>PAX6<\/jats:italic>\n                      ,\n                      <jats:italic>FOXC1<\/jats:italic>\n                      , and\n                      <jats:italic>BCOR<\/jats:italic>\n                      were identified in 59 patients, including 33 point mutations (76.7%) in 43 patients and 10 deletions (23.3%) in 16 patients. The total detection rate was 98.3%. Phenotypic variation was observed between and within families.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Variations in\n                      <jats:italic>PAX6<\/jats:italic>\n                      and its adjacent regions were the predominant causes of aniridia in China. In addition to intragenic point mutations in\n                      <jats:italic>PAX6<\/jats:italic>\n                      , deletion of\n                      <jats:italic>PAX6<\/jats:italic>\n                      or its adjacent genes is a common cause of congenital aniridia. Furthermore,\n                      <jats:italic>FOXC1<\/jats:italic>\n                      is an important gene associated with congenital aniridia. The combination of panel-based NGS and MLPA significantly enhanced the detection rate of gene mutations in patients with congenital aniridia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03388-3","type":"journal-article","created":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T05:02:34Z","timestamp":1729746154000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients"],"prefix":"10.1186","volume":"19","author":[{"given":"Li","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingdan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wentao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghuai","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4396-6353","authenticated-orcid":false,"given":"Yuhong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,24]]},"reference":[{"key":"3388_CR1","doi-asserted-by":"publisher","first-page":"e0153757","DOI":"10.1371\/journal.pone.0153757","volume":"11","author":"M Ansari","year":"2016","unstructured":"Ansari M, et al. 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