{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:49:48Z","timestamp":1758124188941},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,6,27]],"date-time":"2006-06-27T00:00:00Z","timestamp":1151366400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Haploinsufficiency at the <jats:italic>PAX6<\/jats:italic> locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel <jats:italic>PAX6<\/jats:italic> mutations that lead to familial aniridia in Indian patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Genomic DNA was isolated from affected individuals (clinically diagnosed aniridia) from nine unrelated aniridic pedigrees, unaffected family members, and unrelated normal controls. The coding regions of <jats:italic>PAX6<\/jats:italic> were amplified and subjected to single strand conformation polymorphism (SSCP) gel analysis, and direct cloning and sequencing.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>SSCP band shifts, indicative of DNA base pair mutations, were observed in five of these unrelated families. Four mutations were shown to be previously unreported insertion or deletions in <jats:italic>PAX6<\/jats:italic>, leading to frameshifts. These new mutations were c.1174delTG (in exon 10), c.710delC (exon 6), c.406delTT (exon 5) and c.393insTCAGC (exon 5). The other nonsense mutation, a transition (c.1080C&gt;T) in exon 9, has been reported previously as a mutation hotspot for <jats:italic>PAX6<\/jats:italic> in other ethnic pedigrees. All mutant alleles transmitted through aniridic individuals in each family.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>These new deletions and an insertion create frameshifts, which are predicted to introduce premature termination codons into the <jats:italic>PAX6<\/jats:italic> reading frame. The genetic alterations carried by affected individuals are predicted to lead to loss-of-function mutations that would segregate in an autosomal dominant manner to subsequent generations. This is the first report of the 'hotspot' c.1080C&gt;T transition from Indian families.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2415-6-28","type":"journal-article","created":{"date-parts":[[2006,8,15]],"date-time":"2006-08-15T18:15:17Z","timestamp":1155665717000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia"],"prefix":"10.1186","volume":"6","author":[{"given":"Guruswamy","family":"Neethirajan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeyabalan","family":"Nallathambi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subbaiah Ramasamy","family":"Krishnadas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perumalsamy","family":"Vijayalakshmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shetty","family":"Shashikanth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon Martin","family":"Collinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Periasamy","family":"Sundaresan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,6,27]]},"reference":[{"key":"90_CR1","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1093\/hmg\/11.10.1161","volume":"11","author":"V van Heyningen","year":"2002","unstructured":"van Heyningen V, Williamson KA: PAX6 in sensory development. 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