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First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
da Fontoura Galvão, Gustavo; Veloso da Silva, Elielson; Fontes-Dantas, Fabrícia Lima; Filho, Ricardo Castro; Alves-Leon, Soniza; Marcondes de Souza, Jorge.
Afiliação
  • da Fontoura Galvão G; Federal University of Rio de Janeiro, University Hospital Clementino Fraga Filho, Department of de Neurosurgery, Rio de Janeiro RJ, Brazil; Federal University of the State of Rio de Janeiro, Translational Neuroscience Laboratory, Post-Graduation Program in Neurology, Rio de Janeiro RJ, Brazil.
  • Veloso da Silva E; Federal University of the State of Rio de Janeiro, Translational Neuroscience Laboratory, Post-Graduation Program in Neurology, Rio de Janeiro RJ, Brazil; Fluminense Federal University, Post-Graduation Program in Neurology and Neuroscience, Rio de Janeiro RJ, Brazil.
  • Fontes-Dantas FL; Federal University of the State of Rio de Janeiro, Translational Neuroscience Laboratory, Post-Graduation Program in Neurology, Rio de Janeiro RJ, Brazil.
  • Filho RC; Federal University of Rio de Janeiro, University Hospital Clementino Fraga Filho, Department of de Neurosurgery, Rio de Janeiro RJ, Brazil.
  • Alves-Leon S; Federal University of the State of Rio de Janeiro, Translational Neuroscience Laboratory, Post-Graduation Program in Neurology, Rio de Janeiro RJ, Brazil; Federal University of Rio de Janeiro, University Hospital Clementino Fraga Filho, Department of de Neurology, Rio de Janeiro RJ, Brazil.
  • Marcondes de Souza J; Federal University of Rio de Janeiro, University Hospital Clementino Fraga Filho, Department of de Neurosurgery, Rio de Janeiro RJ, Brazil. Electronic address: jormarcondes@gmail.com.
World Neurosurg ; 142: 481-486.e1, 2020 10.
Article em En | MEDLINE | ID: mdl-32615293
BACKGROUND: Familial cerebral cavernous malformations (CCM) are among the most common vascular malformations of the central nervous system (CNS) and are linked to mutations on the specific genes CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. We present the first report in the literature of a pharmaco-resistant epileptic patient harboring co-occurring pathogenic mutations within CCM2/MGC4607 and CCM1/KRIT1. CASE DESCRIPTION: A 51-year-old patient first presented at age of 33 years with episodes of seizures. Magnetic resonance imaging including a susceptibility-weighted imaging sequence had shown multiple cerebral cavernous malformation lesions. She had partial response of symptoms and remained in routine follow-up needing progressive pharmacological improvement. Direct sequencing allowed the detection of 1 nonsense pathogenic mutation in CCM2/MGC4607 (c.118C>T; p.Arg40Ter) and 1 unclassified frameshift insertion variant in CCM1/KRIT1 (c.1687_1688insT; p.Tyr563LeufsTer5). CONCLUSIONS: Although the CCM2/MGC460 variant seems to be the major contributor for the patient's CCM phenotype, the mutated CCM1/KRIT1 seems to act as a booster to CCM overall pathogenicity.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Hemangioma Cavernoso do Sistema Nervoso Central / Proteína KRIT1 Tipo de estudo: Etiology_studies Limite: Humans / Middle aged Idioma: En Revista: World Neurosurg Assunto da revista: NEUROCIRURGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Hemangioma Cavernoso do Sistema Nervoso Central / Proteína KRIT1 Tipo de estudo: Etiology_studies Limite: Humans / Middle aged Idioma: En Revista: World Neurosurg Assunto da revista: NEUROCIRURGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos