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[PMID]:28745674
[Au] Autor:Belousova OB; Bulygina ES; Okishev DN; Prohorchuk EB; Tsygankova SV; Pronin IN; Shishkina LV; Ryzhova MV; Skryabin KG; Konovalov AN
[Ad] Endereço:Burdenko Scientific Research Neurosurgery Institute, Moscow, Russia.
[Ti] Título:[Gene mutations in patients with hereditary cavernous malformations].
[Ti] Título:Analiz mutatsii genov u bol'nykh s nasledstvennymi kavernoznymi mal'formatsiiami TsNS..
[So] Source:Zh Nevrol Psikhiatr Im S S Korsakova;117(6):66-72, 2017.
[Is] ISSN:1997-7298
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:AIM: To identify mutations in cerebral cavernous malformation (CCM) genes in patients with hereditary and sporadic CCMs in the Russian population. MATERIAL AND METHODS: Blood samples from 73 randomly selected patients, including 29 MRI-confirmed familial cases, 8 clinically confirmed familial cases and 38 so-called sporadic cases, were examined. A search for large deletions/duplications was performed using multiplex ligation-dependent probe amplification (MPLA). For MLPA-negative samples, the whole genome sequencing was performed to search for single nucleotide polymorphisms (SNP). RESULTS: Deletions in three genes (ССМ1, ССМ2, ССМ3) were identified in 14 patients, including 5 without definitely established familial type, in whom the familial character of disease was not confirmed by clinical and neuroimaging results. SNP mutations were found in 13 patients, CCM gene mutations in 27. Mutations were detected in 91.7% of familial cases. In two patients, new CCM3 deletions were identified. Gene distribution was as follows: 60.7 for CCM1, 32.2 for CCM2 and 7.1% for CCM3. In two members of a family with hereditary CCMs, no high effect mutations in the known CCM genes were found. Patients with mutations had greater severity of disease. Two patients with CCM3 mutations demonstrated the most aggressive clinical course. De novo formation and growth of CCM were observed only in patients with mutations. CONCLUSION: The distribution of pathogenic mutations in known CCM genes is consistent with other large-scale studies. Familial CCMs are associated with more severe disease course and may be caused by mutations beyond the known CCM genes.
[Mh] Termos MeSH primário: Proteínas Reguladoras de Apoptose/genética
Encéfalo/anormalidades
Proteínas de Transporte/genética
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Proteína KRIT1/genética
Proteínas de Membrana/genética
Proteínas Proto-Oncogênicas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Encéfalo/diagnóstico por imagem
Análise Mutacional de DNA
Feminino
Seres Humanos
Masculino
Reação em Cadeia da Polimerase Multiplex
Mutação
Polimorfismo de Nucleotídeo Único
Federação Russa
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (CCM2 protein, human); 0 (Carrier Proteins); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Membrane Proteins); 0 (PDCD10 protein, human); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.17116/jnevro20171176166-72


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[PMID]:28679101
[Au] Autor:Ganmore I; Achiron A
[Ad] Endereço:Sheba Medical Center at Tel Hashomer, Ramat Gan, Israel anat.achiron@sheba.health.gov.il.
[Ti] Título:Cerebral Cavernous Malformations.
[So] Source:N Engl J Med;377(1):71, 2017 Jul 06.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Encéfalo/patologia
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Cefaleia/etiologia
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Hemangioma Cavernoso do Sistema Nervoso Central/patologia
Seres Humanos
Proteína KRIT1
Imagem por Ressonância Magnética
Masculino
Proteínas Associadas aos Microtúbulos/genética
Meia-Idade
Mutação
Proteínas Proto-Oncogênicas/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170706
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMicm1613312


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[PMID]:28441650
[Au] Autor:Deng H; Chu X; Song Z; Deng X; Xu H; Ye Y; Li S; Zhang Q; Sun C; Li Y
[Ad] Endereço:Department of Nutrition and Food Hygiene, Public Health College, Harbin Medical University, Harbin, China.
[Ti] Título:MicroRNA-1185 Induces Endothelial Cell Apoptosis by Targeting UVRAG and KRIT1.
[So] Source:Cell Physiol Biochem;41(6):2171-2182, 2017.
[Is] ISSN:1421-9778
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: Atherosclerosis is a multifactorial chronic disease and is the main cause of death and impairment in the world. Endothelial injury and apoptosis play a crucial role in the onset and development of atherosclerosis. MicroRNAs (miRNAs) have been proven to be involved in the pathogenesis of atherosclerosis. However, studies of the functional role of apoptosis-related miRNAs in the endothelium during atherogenesis are limited. METHODS: Cell injury and apoptosis were measured in five types of cells transfected with miR-1185 or co-transfected with miR-1185 and its inhibitor. Bioinformatics analysis and a luciferase reporter assay were used to confirm the targets of miR-1185. The effects of the targets of miR-1185 on endothelial apoptosis were determined using small-interfering RNA. RESULTS: In this study, we first report that miR-1185 significantly promoted apoptosis in endothelial cells but not in vascular smooth muscle cells and macrophages. A mechanistic analysis showed that ultraviolet irradiation resistance-associated gene (UVRAG) and krev1 interaction trapped gene 1 (KRIT1), targets of miR-1185, mediated miR-1185-induced endothelial cell apoptosis. CONCLUSION: The results revealed the impact of miR-1185 on endothelial apoptosis, suggesting that miR-1185 may be a potential target for the prevention and treatment of atherosclerosis.
[Mh] Termos MeSH primário: MicroRNAs/metabolismo
Proteínas Associadas aos Microtúbulos/metabolismo
Proteínas Proto-Oncogênicas/metabolismo
Proteínas Supressoras de Tumor/metabolismo
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas
Antagomirs/metabolismo
Apoptose
Aterosclerose/metabolismo
Aterosclerose/patologia
Sequência de Bases
Caspase 3/metabolismo
Regulação para Baixo
Células Endoteliais da Veia Umbilical Humana
Seres Humanos
Proteína KRIT1
MicroRNAs/antagonistas & inibidores
MicroRNAs/genética
Proteínas Associadas aos Microtúbulos/antagonistas & inibidores
Proteínas Associadas aos Microtúbulos/genética
Proteínas Proto-Oncogênicas/antagonistas & inibidores
Proteínas Proto-Oncogênicas/genética
Interferência de RNA
RNA Interferente Pequeno/metabolismo
Alinhamento de Sequência
Proteínas Supressoras de Tumor/antagonistas & inibidores
Proteínas Supressoras de Tumor/genética
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3' Untranslated Regions); 0 (Antagomirs); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (MicroRNAs); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins); 0 (RNA, Small Interfering); 0 (Tumor Suppressor Proteins); 0 (UVRAG protein, human); EC 3.4.22.- (Caspase 3)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170426
[St] Status:MEDLINE
[do] DOI:10.1159/000475571


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[PMID]:28318403
[Au] Autor:Strickland CD; Eberhardt SC; Bartlett MR; Nelson J; Kim H; Morrison LA; Hart BL
[Ad] Endereço:From the Departments of Radiology (C.D.S., S.C.E., B.L.H.) and Neurology (M.R.B., L.A.M.), University of New Mexico Health Sciences Center, MSC 10 5530, 1 University of New Mexico, Albuquerque, NM 87131; and Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, Univer
[Ti] Título:Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition.
[So] Source:Radiology;284(2):443-450, 2017 Aug.
[Is] ISSN:1527-1315
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose To determine if adrenal calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation. Materials and Methods This study was approved by the institutional review board. The authors retrospectively reviewed abdominal CT scans in 38 patients with fCCM, 38 unaffected age- and sex-matched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (CCM). The size, number, and laterality of calcifications and the morphologic characteristics of the adrenal gland were recorded. Brain lesion count was recorded from brain magnetic resonance (MR) imaging in patients with fCCM. The prevalence of adrenal calcifications in patients with fCCM was compared with that in unaffected control subjects and those with sporadic CCM by using the Fisher exact test. Additional analyses were performed to determine whether age and brain lesion count were associated with adrenal findings in patients with fCCM. Results Small focal calcifications (SFCs) (≤5 mm) were seen in one or both adrenal glands in 19 of the 38 patients with fCCM (50%), compared with 0 of the 38 unaffected control subjects (P < .001) and 0 of the 13 subjects with sporadic CCM (P = .001). Adrenal calcifications in patients with fCCM were more frequently left sided, with 17 of 19 patients having more SFCs in the left adrenal gland than the right adrenal gland and 50 of the 61 observed SFCs (82%) found in the left adrenal gland. No subjects had SFCs on the right side only. In patients with fCCM, the presence of SFCs showed a positive correlation with age (P < .001) and number of brain lesions (P < .001). Conclusion Adrenal calcifications identified on CT scans are common in patients with fCCM and may be a clinically silent manifestation of disease. RSNA, 2017.
[Mh] Termos MeSH primário: Doenças das Glândulas Suprarrenais/diagnóstico por imagem
Doenças das Glândulas Suprarrenais/etiologia
Doenças das Glândulas Suprarrenais/genética
Calcinose/diagnóstico por imagem
Calcinose/etiologia
Calcinose/genética
Hemangioma Cavernoso do Sistema Nervoso Central/complicações
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Proteínas Associadas aos Microtúbulos/genética
Proteínas Proto-Oncogênicas/genética
Tomografia Computadorizada por Raios X/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biomarcadores/análise
Estudos de Casos e Controles
Criança
Meios de Contraste
Diagnóstico Diferencial
Feminino
Seres Humanos
Proteína KRIT1
Imagem por Ressonância Magnética
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Contrast Media); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170321
[St] Status:MEDLINE
[do] DOI:10.1148/radiol.2017161127


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[PMID]:28255959
[Au] Autor:Yang C; Nicholas VH; Zhao J; Wu B; Zhong H; Li Y; Xu Y
[Ad] Endereço:Department of Neurosurgery, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 6 Tiantan Xili, Dongcheng District, Beijing, 100050, China.
[Ti] Título:A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
[So] Source:J Mol Neurosci;61(4):511-523, 2017 Apr.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cerebral cavernous malformation (CCM) is a congenital vascular abnormality that predominantly affects the central nervous system, but that sometimes encroaches other vital tissues, including the retina, skin, and even liver. The familial form of CCM (FCCM) is considered to be an autosomal dominant disease with incomplete penetrance and variable expression, which is often attributed to mutations in three genes: CCM1, CCM2, and CCM3. We screened a Chinese family diagnosed with FCCM by using Sanger sequencing. A 29-year-old male proband with cutaneous angiomas was pathologically diagnosed but presented with an atypical form of CCM as revealed by magnetic resonance imaging (MRI) findings, prompting further clinical evaluation and genetic analyses of him and his immediate family. We performed continuous observation over an 8-year period using MRI gradient echo imaging and susceptibility-weighted imaging of these individuals. Sanger sequencing of the CCM1, CCM2, and CCM3 genes identified a novel heterozygous nonsense nucleotide transition (c.1864C>T; p.Gln622X) in exon 17 of the CCM1/KRIT1 gene; this mutation was predicted to cause a premature stop codon (TAG) at nucleotides 1864 to 1866 to generate a truncated Krev interaction trapped 1 (Krit1) protein of 621 amino acids. During this long-term observational study, one of the enrolled family members with neurological deficits progressed to a stage indicative of brain surgery. This study provides a new CCM gene mutation profile, which highlights the significance of genetic counseling for individuals suspected of having this condition.
[Mh] Termos MeSH primário: Códon sem Sentido
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Proteínas Associadas aos Microtúbulos/genética
Proteínas Proto-Oncogênicas/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem
Hemangioma Cavernoso do Sistema Nervoso Central/patologia
Heterozigoto
Seres Humanos
Proteína KRIT1
Imagem por Ressonância Magnética
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170304
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-017-0893-1


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[PMID]:28160210
[Au] Autor:Wang H; Pan Y; Zhang Z; Li X; Xu Z; Suo Y; Li W; Wang Y
[Ad] Endereço:Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
[Ti] Título:A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
[So] Source:J Mol Neurosci;61(2):221-226, 2017 Feb.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Here, we present a Chinese family affected by FCCM due to a novel KRIT1/CCM1 insertion mutation. The proband was hospitalized for sudden unconsciousness and underwent surgical treatment. The section of lesions showed classical cavernous-dilated vessels without intervening brain parenchyma, and hemosiderin-laden macrophages were accumulated in the surrounding tissue. In addition, magnetic resonance imaging (MRI) showed severe multiple cerebral cavernous malformation (CCM) lesions in cerebrum, brainstem, and cerebellum in other affected subjects. Especially, for the proband's mother, hundreds of lesions were presented, and a few lesions were found in the expanded lateral ventricle (Evans' index =0.33). Moreover, she showed the similar symptoms of hydrocephalus, including headache, dizziness, and diplopia. It was extremely rare in previous reports. To date, the genetic alterations leading to FCCM in Chinese population remain largely unknown. We investigated genetic defects of this family. Sequence analyses disclosed a novel heterozygous insertion mutation (c.1896_1897insT; p.Pro633SerfsTer22) in KRIT1/CCM1. Moreover, our real-time PCR results revealed that the mRNA level of KRIT1/CCM1 were significantly decreased in FCCM subjects (CCM family =0.42 ± 0.20 vs. healthy control =1.01 ± 0.16, P = 0.004). It indicated that this mutation could cause KRIT1/CCM1 functional mRNA deficiency. It may be closely related with the pathogenesis of FCCM. Our findings provided a new gene mutation profile which will be of great significance in early diagnosis and appropriate clinical surveillance of FCCM patients.
[Mh] Termos MeSH primário: Hemangioma Cavernoso do Sistema Nervoso Central/genética
Proteínas Associadas aos Microtúbulos/genética
Mutagênese Insercional
Proteínas Proto-Oncogênicas/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem
Hemangioma Cavernoso do Sistema Nervoso Central/patologia
Seres Humanos
Proteína KRIT1
Masculino
Proteínas Associadas aos Microtúbulos/metabolismo
Meia-Idade
Linhagem
Proteínas Proto-Oncogênicas/metabolismo
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins); 0 (RNA, Messenger)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170205
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-017-0881-5


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[PMID]:28003363
[Au] Autor:Draheim KM; Huet-Calderwood C; Simon B; Calderwood DA
[Ad] Endereço:From the Department of Pharmacology and.
[Ti] Título:Nuclear Localization of Integrin Cytoplasmic Domain-associated Protein-1 (ICAP1) Influences ß1 Integrin Activation and Recruits Krev/Interaction Trapped-1 (KRIT1) to the Nucleus.
[So] Source:J Biol Chem;292(5):1884-1898, 2017 Feb 03.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Binding of ICAP1 (integrin cytoplasmic domain-associated protein-1) to the cytoplasmic tails of ß1 integrins inhibits integrin activation. ICAP1 also binds to KRIT1 (Krev interaction trapped-1), a protein whose loss of function leads to cerebral cavernous malformation, a cerebrovascular dysplasia occurring in up to 0.5% of the population. We previously showed that KRIT1 functions as a switch for ß1 integrin activation by antagonizing ICAP1-mediated inhibition of integrin activation. Here we use overexpression studies, mutagenesis, and flow cytometry to show that ICAP1 contains a functional nuclear localization signal and that nuclear localization impairs the ability of ICAP1 to suppress integrin activation. Moreover, we find that ICAP1 drives the nuclear localization of KRIT1 in a manner dependent upon a direct ICAP1/KRIT1 interaction. Thus, nuclear-cytoplasmic shuttling of ICAP1 influences both integrin activation and KRIT1 localization, presumably impacting nuclear functions of KRIT1.
[Mh] Termos MeSH primário: Núcleo Celular/metabolismo
Integrina beta1/metabolismo
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Proteínas de Membrana/metabolismo
Proteínas Associadas aos Microtúbulos/metabolismo
Proteínas Proto-Oncogênicas/metabolismo
[Mh] Termos MeSH secundário: Transporte Ativo do Núcleo Celular/fisiologia
Animais
Células CHO
Núcleo Celular/genética
Cricetinae
Cricetulus
Células HEK293
Seres Humanos
Integrina beta1/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
Proteína KRIT1
Proteínas de Membrana/genética
Proteínas Associadas aos Microtúbulos/genética
Proteínas Proto-Oncogênicas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ITGB1BP1 protein, human); 0 (Integrin beta1); 0 (Intracellular Signaling Peptides and Proteins); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Membrane Proteins); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M116.762393


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[PMID]:28000143
[Au] Autor:Scimone C; Bramanti P; Alafaci C; Granata F; Piva F; Rinaldi C; Donato L; Greco F; Sidoti A; D'Angelo R
[Ad] Endereço:Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, via C. Valeria 1, 98125, Messina, Italy.
[Ti] Título:Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
[So] Source:J Mol Neurosci;61(2):189-198, 2017 Feb.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain. To date, three CCM causative genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. In our previous mutation screening, performed in a cohort of 95 Italian patients, with both sporadic and familial cases, we identified several mutations in CCM genes. This study represents further molecular screening in a cohort of 19 Italian patients enrolled by us in the few last years and classified into familial, sporadic and sporadic with multiple lesions cases. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis were performed to detect point mutations and large genomic rearrangements, respectively. Effects of detected mutations and single-nucleotide polymorphisms (SNPs) were evaluated by an in silico approach and by western blot analysis. A novel nonsense mutation in CCM1 and a novel missense mutation in CCM2 were detected; moreover, several CCM2 gene polymorphisms in sporadic CCM patients were reported. We believe that these data enrich the mutation spectrum of CCM genes, which is useful for genetic counselling to identify both familial and sporadic CCM cases, as early as possible.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Proteínas Associadas aos Microtúbulos/genética
Mutação
Proteínas Proto-Oncogênicas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Proteínas Reguladoras de Apoptose/genética
Proteínas de Transporte/química
Criança
Feminino
Seres Humanos
Lactente
Proteína KRIT1
Masculino
Proteínas de Membrana/genética
Linhagem
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (CCM2 protein, human); 0 (Carrier Proteins); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Membrane Proteins); 0 (Microtubule-Associated Proteins); 0 (PDCD10 protein, human); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-016-0863-z


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[PMID]:27792856
[Au] Autor:de Vos IJ; Vreeburg M; Koek GH; van Steensel MA
[Ad] Endereço:Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
[Ti] Título:Review of familial cerebral cavernous malformations and report of seven additional families.
[So] Source:Am J Med Genet A;173(2):338-351, 2017 Feb.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability. Although the clinical course is unpredictable, symptoms typically present during adult life and include headaches, focal neurological deficits, seizures, and potentially fatal stroke. In addition to neural lesions, extraneural cavernous malformations have been described in familial disease in several tissues, in particular the skin. We here present seven novel FCCM families with neurologic and cutaneous lesions. We review histopathological and clinical features and provide an update on the pathophysiology of cerebral cavernous malformations and associated cutaneous vascular lesions. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico
Hemangioma Cavernoso do Sistema Nervoso Central/genética
[Mh] Termos MeSH secundário: Biópsia
Proteínas de Transporte/genética
Análise Mutacional de DNA
Feminino
Testes Genéticos
Genótipo
Seres Humanos
Proteína KRIT1
Imagem por Ressonância Magnética
Masculino
Proteínas Associadas aos Microtúbulos/genética
Linhagem
Fenótipo
Proteínas Proto-Oncogênicas/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CCM2 protein, human); 0 (Carrier Proteins); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161030
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38028


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[PMID]:27649701
[Au] Autor:Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y
[Ad] Endereço:Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
[Ti] Título:Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
[So] Source:J Mol Neurosci;61(1):8-15, 2017 Jan.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families. This study enrolled five Chinese families with FCCM. All index cases underwent surgical treatment and were diagnosed with CCM by pathology; their relatives were diagnosed based on radiological and/or pathological evidence. Genomic DNA was extracted from peripheral blood and amplified using polymerase chain reaction (PCR) for DNA sequencing. The five families comprised a total of 21 affected individuals: 12 of these were symptomatic, and 9 were asymptomatic. Sequence analyses in the index patients disclosed three heterozygous loss-of-function mutations in the CCM1/KRIT1 gene in three families, respectively: a novel deletion mutation (c.1780delG; p.Ala594HisfsX67) in exon 16, a novel splice-site mutation (c.1412-1G>A) in the splice acceptor site in intron 13, and a previously described 4-bp deletion (c.1197_1200delCAAA; p.Gln401ThrfsX10) in exon 12. All of these mutations are predicted to cause a premature termination codon to generate a truncated Krev interaction trapped 1 (Krit1) protein. These mutations segregated in affected relatives. Our findings provided new CCM1 gene mutation profiles, which help to elucidate the pathogenesis of FCCM and will be of great significance in genetic counseling.
[Mh] Termos MeSH primário: Malformações Vasculares do Sistema Nervoso Central/genética
Deleção de Genes
Proteínas Associadas aos Microtúbulos/genética
Proteínas Proto-Oncogênicas/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Malformações Vasculares do Sistema Nervoso Central/diagnóstico
Códon sem Sentido
Éxons
Feminino
Seres Humanos
Íntrons
Proteína KRIT1
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (KRIT1 Protein); 0 (KRIT1 protein, human); 0 (Microtubule-Associated Proteins); 0 (Proto-Oncogene Proteins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160922
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-016-0836-2



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