Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations

Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Zoe Katsarou, Luigi Donato, Antonina Sidoti, Rosalia D’Angelo

Research output: Contribution to journalArticlepeer-review

Abstract

Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered.

Original languageEnglish
Pages (from-to)400-403
Number of pages4
JournalJournal of Molecular Neuroscience
Volume57
Issue number3
DOIs
Publication statusPublished - Jun 27 2015

Keywords

  • CCM3 mutation
  • Familial cerebral cavernous malformations
  • Impaired angiogenesis
  • Incomplete penetrance

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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