Ophthalmic genetics · 2006
A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Kitzmann Anna S, Pulido Jose S, Ferber Matthew J, Highsmith W Edward, Babovic-Vuksanovic Dusica
Аннотация
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.
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.