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The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in <jats:italic>PAX2<\/jats:italic> are found in only a few cases of coloboma of the retina and optic nerve that occur with renal anomalies as part of the renal\u2010coloboma syndrome (MIM#120330; #167409). From experimental data that upstream expression of sonic hedgehog (<jats:italic>SHH<\/jats:italic>) controls <jats:italic>Pax2<\/jats:italic> expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that <jats:italic>SHH<\/jats:italic> could be a candidate for non\u2010syndromic ocular colobomas (NSOC). We identified a three\u2010generation family in which both a proband and his mother presented with iris and uveoretinal colobomas without optic nerve involvement. A novel 24 bp deletion in the gene <jats:italic>SHH<\/jats:italic> was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of <jats:italic>SHH<\/jats:italic> mutations and uveoretinal coloboma. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10884","type":"journal-article","created":{"date-parts":[[2002,12,28]],"date-time":"2002-12-28T17:02:21Z","timestamp":1041094941000},"page":"215-221","source":"Crossref","is-referenced-by-count":126,"title":["Novel mutation in sonic hedgehog in non\u2010syndromic colobomatous microphthalmia"],"prefix":"10.1002","volume":"116A","author":[{"given":"Lisa A.","family":"Schimmenti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard 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