TY - JOUR
T1 - Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
AU - Scimone, Concetta
AU - Bramanti, Placido
AU - Ruggeri, Alessia
AU - Katsarou, Zoe
AU - Donato, Luigi
AU - Sidoti, Antonina
AU - D’Angelo, Rosalia
PY - 2015/6/27
Y1 - 2015/6/27
N2 - 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.
AB - 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.
KW - CCM3 mutation
KW - Familial cerebral cavernous malformations
KW - Impaired angiogenesis
KW - Incomplete penetrance
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U2 - 10.1007/s12031-015-0606-6
DO - 10.1007/s12031-015-0606-6
M3 - Article
C2 - 26115622
AN - SCOPUS:84944275384
VL - 57
SP - 400
EP - 403
JO - Journal of Molecular Neuroscience
JF - Journal of Molecular Neuroscience
SN - 0895-8696
IS - 3
ER -