One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia

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art_ABRAHAO_One_family_one_gene_and_three_phenotypes_A_2016.PDF (1.35 MB)
Citações na Scopus
35
Tipo de produção
article
Data de publicação
2016
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER SCIENCE BV
Autores
ABRAHAO, Agessandro
SANTOS, Bibiana
PINTO, Wladimir Bocca Vieira de Rezende
BARSOTTINI, Orlando Graziani Povoas
OLIVEIRA, Acary Souza Bulle
PEDROSO, Jose Luiz
Citação
JOURNAL OF THE NEUROLOGICAL SCIENCES, v.368, p.352-358, 2016
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Background: VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and familial amyotrophic lateral sclerosis (ALS) type 14. The combination of IBM, PDB (IBMPFD1) can presented in one individual. However, the association of IBMPFD1 and ALS in the same family is rare. Methods: We reported three individuals from a Brazilian kindred with intrafamilial phenotype variability. Whole exome sequencing (WES) of the proband was performed and revealed a novel VCP variant. VCP Sanger sequencing was performed in the proband and his family members to confirm WES finding and segregation. We performed a systematic review of the literature regarding the genotypic-phenotypic VCP correlations. Results: Each individual presented with either myopathy with rimmed vacuoles, ALS, or FTD. There was no PDB. WES of the proband identified the heterozygous variant c.271A> T (p.Asn91Tyr) in the exon 3 of VCP. Sanger sequencing confirmed the segregation of this variant in an autosomal-dominant pattern. Conclusion: This study expands the genotypic spectrum of the missense mutations of the VCP gene with a novel p.Asn9lTyr variant found in a Brazilian family presenting with the unusual intrafamiliar association of myopathy with rimmed vacuoles, ALS and FTD.
Palavras-chave
Inclusion body myopathy, Frontotemporal dementia, Amyotrophic lateral sclerosis, VCP, Valosin-containing protein
URI
https://observatorio.fm.usp.br/handle/OPI/16218
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15