A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
OBJECTIVE
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.
Kitzmann
Anna S
AS
Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.
Pulido
Jose S
JS
Ferber
Matthew J
MJ
Highsmith
W Edward
WE
Babovic-Vuksanovic
Dusica
D
D017089:Ankyrin Repeat / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006392:Hemangioma, Cavernous / Q000235:genetics*; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D019572:Retinal Neoplasms / Q000235:genetics*
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites