A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.
Kohei MutoRyosuke MiyamotoYuka TerasawaYoshimitsu ShimataniKeijiro HaraTakumi KakimotoTatsuya FukumotoYusuke OsakiKoji FujitaMasafumi HaradaHisanori UeharaYasushi TakagiYuishin IzumiPublished in: Human genome variation (2021)
COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.