Cerebral cavernous malformation (CCM) is a congenital vascular anomaly that predominantly involves the central nervous system (CNS). CCM occurs in either a sporadic or an inherited form; the latter is called familial cerebral cavernous malformation (FCCM). FCCM has an autosomal dominant transmission with incomplete penetrance and variable clinical expression that is associated with germline mutations in the CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. Herein, we disclose two novel heterozygous mutations in the CCM2 gene in a Chinese family: a deletion mutation (c.55C>T; p. R19X, 426) in exon 2 and a mutation (c.*18G>A) in the noncoding region of exon 10. Our findings provide new CCM2 gene mutation profiles and further evidence for phenotypic heterogeneity.
Keywords: CCM2 mutation; Familial cerebral cavernous malformation; Novel mutations; Susceptibility-weighted imaging.