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2 results on '"Accorsi LG"'

1. PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Author

Giuseppe De Michele, Andrea Mosca, Maria F ranca Corona, Maria Sole Cigoli, Fausta Ciccocioppo, Francesca Avemaria, Lilia Volpi, Silvana Penco, Margherita Estienne, Leda Bilo, Antonella Antenora, Valeria Capra, Giovanni Baranello, Francesca Notturno, Stefano De Benedetti, Giovanni P. Gesu, Nelia Zamponi, Enrico Alfei, Simona Giovannini, Stefano Parmigiani, Antonietta Tavoni, Daria Riva, Lucio G iordano Accorsi, Cigoli, M, Avemaria, F, De Benedetti, S, Gesu, Gp, Accorsi, Lg, Parmigiani, S, Corona, Mf, Capra, V, Mosca, A, Giovannini, S, Notturno, F, Ciccocioppo, F, Volpi, L, Estienne, M, DE MICHELE, Giuseppe, Antenora, Antonella, Bilo, Leonilda, Tavoni, A, Zamponi, N, Alfei, E, Baranello, G, Riva, D, and Penco, S.

Subjects
Pathology, medicine.medical_specialty, lcsh:Medicine, Gene mutation, Biology, medicine.disease_cause, Vascular Medicine, Genotype-phenotype distinction, Diagnostic Medicine, Gene duplication, medicine, Genetics, Medicine and Health Sciences, Multiplex ligation-dependent probe amplification, lcsh:Science, Clinical Genetics, Mutation, Multidisciplinary, Population Biology, lcsh:R, Biology and Life Sciences, Phenotype, Penetrance, Neurology, lcsh:Q, Age of onset, Research Article, Neuroscience
Abstract

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/ CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/ CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/ CCM3 lead to a characteristic phenotype.

Published
2014

2. PDCD10 gene mutations in multiple cerebral cavernous malformations.

Author

Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, and Penco S

Subjects
Adolescent, Adult, Age of Onset, Aged, Child, Preschool, DNA Mutational Analysis, Female, Hemangioma, Cavernous, Central Nervous System pathology, Humans, Italy, Male, Middle Aged, Pedigree, Apoptosis Regulatory Proteins genetics, Hemangioma, Cavernous, Central Nervous System genetics, Membrane Proteins genetics, Mutation, Proto-Oncogene Proteins genetics
Abstract

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype.

Published
2014
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