Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10). CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache. However, patients are frequently asymptomatic. In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients. In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.
Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy ; IRCCS Centro Neurolesi "Bonino-Pulejo", Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy.
Rosalia
R
D'Angelo
Concetta
C
Alafaci
Concetta
C
Scimone
Alessia
A
Ruggeri
Francesco Maria
FM
Salpietro
Placido
P
Bramanti
Francesco
F
Tomasello
Antonina
A
Sidoti
D020413:3' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000737:chemistry* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D020786:Hemangioma, Cavernous, Central Nervous System / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy; D000075927:KRIT1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011859:Radiography; D055815:Young Adult
D020413:3' Untranslated Regions; D051017:Apoptosis Regulatory Proteins; C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins