Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia

Lisa A. Schimmenti, June De la Cruz, Richard Alan Lewis, J. D. Karkera, Glenda S. Manligas, Erich Roessler, Maximilian Muenke

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132 Scopus citations


Ocular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 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-coloboma syndrome (MIM#120330; #167409). From experimental data that upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that SHH could be a candidate for non-syndromic ocular colobomas (NSOC). We identified a three-generation 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 SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma.

Original languageEnglish (US)
Pages (from-to)215-221
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - Jan 2003
Externally publishedYes


  • Coloboma
  • Microphthalmia
  • PAX2
  • Sonic hedgehog


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