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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 attributab...

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Autores principales: D'Angelo, Rosalia, Alafaci, Concetta, Scimone, Concetta, Ruggeri, Alessia, Salpietro, Francesco Maria, Bramanti, Placido, Tomasello, Francesco, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766605/
https://www.ncbi.nlm.nih.gov/pubmed/24058906
http://dx.doi.org/10.1155/2013/459253
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author D'Angelo, Rosalia
Alafaci, Concetta
Scimone, Concetta
Ruggeri, Alessia
Salpietro, Francesco Maria
Bramanti, Placido
Tomasello, Francesco
Sidoti, Antonina
author_facet D'Angelo, Rosalia
Alafaci, Concetta
Scimone, Concetta
Ruggeri, Alessia
Salpietro, Francesco Maria
Bramanti, Placido
Tomasello, Francesco
Sidoti, Antonina
author_sort D'Angelo, Rosalia
collection PubMed
description 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.
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spelling pubmed-37666052013-09-22 Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients D'Angelo, Rosalia Alafaci, Concetta Scimone, Concetta Ruggeri, Alessia Salpietro, Francesco Maria Bramanti, Placido Tomasello, Francesco Sidoti, Antonina Biomed Res Int Research Article 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. Hindawi Publishing Corporation 2013 2013-08-22 /pmc/articles/PMC3766605/ /pubmed/24058906 http://dx.doi.org/10.1155/2013/459253 Text en Copyright © 2013 Rosalia D'Angelo et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
D'Angelo, Rosalia
Alafaci, Concetta
Scimone, Concetta
Ruggeri, Alessia
Salpietro, Francesco Maria
Bramanti, Placido
Tomasello, Francesco
Sidoti, Antonina
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title_full Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title_fullStr Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title_full_unstemmed Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title_short Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
title_sort sporadic cerebral cavernous malformations: report of further mutations of ccm genes in 40 italian patients
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766605/
https://www.ncbi.nlm.nih.gov/pubmed/24058906
http://dx.doi.org/10.1155/2013/459253
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