Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis
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Publication Date: | 2020 |
Other Authors: | , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Institucional da UNESP |
Download full: | http://dx.doi.org/10.1038/s10038-020-0749-3 http://hdl.handle.net/11449/195482 |
Summary: | 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. |
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Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosisAmyloidosis, 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.Fed Univ Vale Sao Francisco, Petrolina, PE, BrazilSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, BrazilUniv Estadual Santa Cruz, Ilheus, BA, BrazilBahiana Sch Med & Publ Hlth, Salvador, BA, BrazilBahia Hosp, Salvador, BA, BrazilSao Paulo State Univ, Sch Med Ribeirao Preto, Sao Paulo, BrazilNature Publishing GroupFed Univ Vale Sao FranciscoUniversidade Estadual Paulista (Unesp)Univ Estadual Santa CruzBahiana Sch Med & Publ HlthBahia HospSilva-Batista, Jemima A. daMarques Jr, Wilson [UNESP]Oliveira, Mayala Thayrine de J. S.Lins, Lucas Vergne C.Galvao, Adilson Junior P.Miguel, Diego Santana Chaves G.Machado-Costa, Marcela Camara2020-12-10T17:36:03Z2020-12-10T17:36:03Z2020-08-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article711-713http://dx.doi.org/10.1038/s10038-020-0749-3Journal Of Human Genetics. New York: Nature Publishing Group, v. 65, n. 8, p. 711-713, 2020.1434-5161http://hdl.handle.net/11449/19548210.1038/s10038-020-0749-3WOS:000544773500009Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal Of Human Geneticsinfo:eu-repo/semantics/openAccess2021-10-23T08:53:50Zoai:repositorio.unesp.br:11449/195482Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462021-10-23T08:53:50Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
title |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
spellingShingle |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis Silva-Batista, Jemima A. da |
title_short |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
title_full |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
title_fullStr |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
title_full_unstemmed |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
title_sort |
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis |
author |
Silva-Batista, Jemima A. da |
author_facet |
Silva-Batista, Jemima A. da Marques Jr, Wilson [UNESP] Oliveira, Mayala Thayrine de J. S. Lins, Lucas Vergne C. Galvao, Adilson Junior P. Miguel, Diego Santana Chaves G. Machado-Costa, Marcela Camara |
author_role |
author |
author2 |
Marques Jr, Wilson [UNESP] Oliveira, Mayala Thayrine de J. S. Lins, Lucas Vergne C. Galvao, Adilson Junior P. Miguel, Diego Santana Chaves G. Machado-Costa, Marcela Camara |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Fed Univ Vale Sao Francisco Universidade Estadual Paulista (Unesp) Univ Estadual Santa Cruz Bahiana Sch Med & Publ Hlth Bahia Hosp |
dc.contributor.author.fl_str_mv |
Silva-Batista, Jemima A. da Marques Jr, Wilson [UNESP] Oliveira, Mayala Thayrine de J. S. Lins, Lucas Vergne C. Galvao, Adilson Junior P. Miguel, Diego Santana Chaves G. Machado-Costa, Marcela Camara |
description |
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. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-10T17:36:03Z 2020-12-10T17:36:03Z 2020-08-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1038/s10038-020-0749-3 Journal Of Human Genetics. New York: Nature Publishing Group, v. 65, n. 8, p. 711-713, 2020. 1434-5161 http://hdl.handle.net/11449/195482 10.1038/s10038-020-0749-3 WOS:000544773500009 |
url |
http://dx.doi.org/10.1038/s10038-020-0749-3 http://hdl.handle.net/11449/195482 |
identifier_str_mv |
Journal Of Human Genetics. New York: Nature Publishing Group, v. 65, n. 8, p. 711-713, 2020. 1434-5161 10.1038/s10038-020-0749-3 WOS:000544773500009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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Journal Of Human Genetics |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
711-713 |
dc.publisher.none.fl_str_mv |
Nature Publishing Group |
publisher.none.fl_str_mv |
Nature Publishing Group |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
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1799965056367067136 |