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

Ophthalmic Genet. 2006 Dec;27(4):157-9. doi: 10.1080/13816810600977168.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ankyrin Repeat / genetics
  • Brain Neoplasms / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Hemangioma, Cavernous / genetics*
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Humans
  • KRIT1 Protein
  • Magnetic Resonance Imaging
  • Microtubule-Associated Proteins / genetics*
  • Point Mutation*
  • Proto-Oncogene Proteins / genetics*
  • RNA Splice Sites / genetics*
  • Retinal Neoplasms / genetics*

Substances

  • KRIT1 Protein
  • KRIT1 protein, human
  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins
  • RNA Splice Sites