Homo sapiens Raw sequence reads

Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. In this study, we identified a novel CCM1/KRIT1 mutation in a Chinese family with FCCMs. This family consists of 20 members and 6 of them had been diagnosed with CCMs. The proband patient is a 17 year old female who has suffered from CCMs-related intracranial hemorrhage four times. Magnetic resonance imaging (MRI) revealed four lesions in the different brain regions and one lesion has been progressively enlarged. The pathological histology confirmed CCMs. Next generation sequencing revealed a novel deletion mutation (c.1635delA) within exon 15 of CCM1/KRIT1 gene in the proband patient and her mother. This frameshift mutation led to a premature translation termination (TGA) at nucleotides 1652 to1654 and gave rise to a truncated KRIT1 protein lacking FERM-3 domain at C-terminal.