A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

Anna S. Kitzmann, Jose S. Pulido, Matthew J. Ferber, W. Edward Highsmith, Dusica Babovic-Vuksanovic

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.

Original languageEnglish (US)
Pages (from-to)157-159
Number of pages3
JournalOphthalmic Genetics
Volume27
Issue number4
DOIs
StatePublished - Dec 1 2006

Keywords

  • CCM1/KRIT1 gene
  • Cerebral cavernous hemangioma
  • Retinal cavernous hemangioma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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