Autor: |
da Silva-Batista JA; Federal University of Vale do São Francisco, Petrolina, Pernambuco, Brazil. jemimaaraujods@gmail.com., Marques W Jr; School of Medicine of Ribeirão Preto, São Paulo State University, São Paulo, Brazil., Oliveira MTJS; State University of Santa Cruz, Ilheus, Bahia, Brazil., Lins LVC; Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil., Galvão AJP; Bahia Hospital, Salvador, Bahia, Brazil., Miguel DSCG; Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil., Machado-Costa MC; Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil. |
Jazyk: |
angličtina |
Zdroj: |
Journal of human genetics [J Hum Genet] 2020 Aug; Vol. 65 (8), pp. 711-713. Date of Electronic Publication: 2020 Apr 09. |
DOI: |
10.1038/s10038-020-0749-3 |
Abstrakt: |
Amyloidosis, 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. |
Databáze: |
MEDLINE |
Externí odkaz: |
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