Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis

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Autor(es): dc.contributorFed Univ Vale Sao Francisco-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorUniv Estadual Santa Cruz-
Autor(es): dc.contributorBahiana Sch Med & Publ Hlth-
Autor(es): dc.contributorBahia Hosp-
Autor(es): dc.creatorSilva-Batista, Jemima A. da-
Autor(es): dc.creatorMarques Jr, Wilson [UNESP]-
Autor(es): dc.creatorOliveira, Mayala Thayrine de J. S.-
Autor(es): dc.creatorLins, Lucas Vergne C.-
Autor(es): dc.creatorGalvao, Adilson Junior P.-
Autor(es): dc.creatorMiguel, Diego Santana Chaves G.-
Autor(es): dc.creatorMachado-Costa, Marcela Camara-
Data de aceite: dc.date.accessioned2022-02-22T00:05:56Z-
Data de disponibilização: dc.date.available2022-02-22T00:05:56Z-
Data de envio: dc.date.issued2020-12-09-
Data de envio: dc.date.issued2020-12-09-
Data de envio: dc.date.issued2020-08-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1038/s10038-020-0749-3-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/195482-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/195482-
Descrição: dc.descriptionAmyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p.Val50Met) is the most frequent mutation, and patients exhibit polyneuropathy, possibly including cardiac, renal, gastrointestinal, and/or ocular involvement. Val122Ile (p.Val142Ile) is the mutation associated with cardiomyopathy, and few cases have been reported in Brazil. Most individuals are heterozygous for one pathogenic mutation. Herein, we report a compound heterozygote with two pathogenic mutations (Val30Met/ Val122Ile), and a family history of a deceased brother with amyloidosis, who also carried the same TTR gene mutations. The patient presented with neuropathic, cardiac, and renal impairment and a faster disease progression. Cases of the double mutation have been linked to changes in disease presentation. The concomitance of two pathogenic mutations may have contributed to more exuberant manifestations and faster disease progression.-
Descrição: dc.descriptionFed Univ Vale Sao Francisco, Petrolina, PE, Brazil-
Descrição: dc.descriptionSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, Brazil-
Descrição: dc.descriptionUniv Estadual Santa Cruz, Ilheus, BA, Brazil-
Descrição: dc.descriptionBahiana Sch Med & Publ Hlth, Salvador, BA, Brazil-
Descrição: dc.descriptionBahia Hosp, Salvador, BA, Brazil-
Descrição: dc.descriptionSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, Brazil-
Formato: dc.format711-713-
Idioma: dc.languageen-
Publicador: dc.publisherNature Publishing Group-
Relação: dc.relationJournal Of Human Genetics-
???dc.source???: dc.sourceWeb of Science-
Título: dc.titlePresence of val30Met and val122ile mutations in a patient with hereditary amyloidosis-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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