Literature DB >> 17148043

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

Anna S Kitzmann1, Jose S Pulido, Matthew J Ferber, W Edward Highsmith, Dusica Babovic-Vuksanovic.   

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.

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Year:  2006        PMID： 17148043     DOI： 10.1080/13816810600977168

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


  1 in total

1.  Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.

Authors:  Shantan Reddy; Michael B Gorin; Tara A McCannel; Irena Tsui; Bradley R Straatsma
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2010-03-20       Impact factor: 3.117
  1 in total

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