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

dc.contributor.authorSilva-Batista, Jemima A. da
dc.contributor.authorMarques Jr, Wilson [UNESP]
dc.contributor.authorOliveira, Mayala Thayrine de J. S.
dc.contributor.authorLins, Lucas Vergne C.
dc.contributor.authorGalvao, Adilson Junior P.
dc.contributor.authorMiguel, Diego Santana Chaves G.
dc.contributor.authorMachado-Costa, Marcela Camara
dc.contributor.institutionFed Univ Vale Sao Francisco
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniv Estadual Santa Cruz
dc.contributor.institutionBahiana Sch Med & Publ Hlth
dc.contributor.institutionBahia Hosp
dc.description.abstractAmyloidosis, 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.en
dc.description.affiliationFed Univ Vale Sao Francisco, Petrolina, PE, Brazil
dc.description.affiliationSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, Brazil
dc.description.affiliationUniv Estadual Santa Cruz, Ilheus, BA, Brazil
dc.description.affiliationBahiana Sch Med & Publ Hlth, Salvador, BA, Brazil
dc.description.affiliationBahia Hosp, Salvador, BA, Brazil
dc.description.affiliationUnespSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, Brazil
dc.identifier.citationJournal Of Human Genetics. New York: Nature Publishing Group, v. 65, n. 8, p. 711-713, 2020.
dc.publisherNature Publishing Group
dc.relation.ispartofJournal Of Human Genetics
dc.sourceWeb of Science
dc.titlePresence of val30Met and val122ile mutations in a patient with hereditary amyloidosisen
dcterms.rightsHolderNature Publishing Group