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Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation Scarica

Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized
by abnormally enlarged capillary cavities. CCMs can occur as sporadic or familial autosomal
dominant form. Familial cases are associated with mutations in CCM1 [K-Rev
interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. In this
study, a three-gene mutation screening was performed by direct exon sequencing, in a
cohort of 95 Italian patients either sporadic or familial, as well as on their at-risk relatives.
Sixteen mutations in 16 unrelated CCM patients were identified, nine mutations are
novel: c.413T > C; c.601C > T; c.846 + 2T > G; c.1254delA; c.1255-4delGTA; c.1681-
1682delTA in CCM1; c.48A > G; c.82-83insAG in CCM2; and c.396G > A in CCM3
genes. The samples, negative to direct exon sequencing, were investigated by MLPA to
search for intragenic deletions or duplications. One deletion in CCM1 exon 18 was
detected in a sporadic patient. Among familial cases 67% had a mutation in CCM1, 5.5%
in CCM2, and 5.5% in CCM3, whereas in the remaining 22% no mutations were detected,
suggesting the existence of either undetectable mutations or other CCM genes. This study
represents the first extensive research program for a comprehensive molecular screening
of the three known genes in an Italian cohort of CCM patients and their at-risk relatives.
Inviato da:
Administrator (admin)
Inviato il
07 Sep 2011
Dimensioni del file:
1,257.68 Kb
Autore del file:
Rosalia D’Angelo1*; Valeria Marini2*; Carmela Rinaldi1; Paola Origone2; Alessandra Dorcaratto3; Mari
Inviato il
27 Jun 2011
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