Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family

Abstract

Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis.

Keywords: Cavernoma; Cavernoma-related epilepsy; Cerebral cavernous malformation; Familial CCM; KRIT1 gene.