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

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.

• Authors: Anna S Kitzmann, Jose S Pulido, Matthew J Ferber, W Edward Highsmith, Dusica Babovic-Vuksanovic
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 27 Issue 4 Pg. 157-9 (Dec 2006) ISSN: 1381-6810 [Print] England
• PMID: 17148043 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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)