Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Einstein (São Paulo) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492 |
Resumo: | ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5’UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice. |
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Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndromeFerritinsCataractPoint mutationGeneticsHeredityCase reportsABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5’UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice.Instituto Israelita de Ensino e Pesquisa Albert Einstein2017-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492einstein (São Paulo) v.15 n.4 2017reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.1590/s1679-45082017rc4006info:eu-repo/semantics/openAccessPetroni,Roberta CardosoRosa,Susana Elaine Alves daCarvalho,Flavia Pereira deSantana,Rúbia Anita FerrazHyppolito,Joyce EstevesNascimento,Claudia Mac Donald BleyHamerschlak,NelsonCampregher,Paulo Vidaleng2018-01-18T00:00:00Zoai:scielo:S1679-45082017000400492Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2018-01-18T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false |
dc.title.none.fl_str_mv |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
title |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
spellingShingle |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome Petroni,Roberta Cardoso Ferritins Cataract Point mutation Genetics Heredity Case reports |
title_short |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
title_full |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
title_fullStr |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
title_full_unstemmed |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
title_sort |
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome |
author |
Petroni,Roberta Cardoso |
author_facet |
Petroni,Roberta Cardoso Rosa,Susana Elaine Alves da Carvalho,Flavia Pereira de Santana,Rúbia Anita Ferraz Hyppolito,Joyce Esteves Nascimento,Claudia Mac Donald Bley Hamerschlak,Nelson Campregher,Paulo Vidal |
author_role |
author |
author2 |
Rosa,Susana Elaine Alves da Carvalho,Flavia Pereira de Santana,Rúbia Anita Ferraz Hyppolito,Joyce Esteves Nascimento,Claudia Mac Donald Bley Hamerschlak,Nelson Campregher,Paulo Vidal |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Petroni,Roberta Cardoso Rosa,Susana Elaine Alves da Carvalho,Flavia Pereira de Santana,Rúbia Anita Ferraz Hyppolito,Joyce Esteves Nascimento,Claudia Mac Donald Bley Hamerschlak,Nelson Campregher,Paulo Vidal |
dc.subject.por.fl_str_mv |
Ferritins Cataract Point mutation Genetics Heredity Case reports |
topic |
Ferritins Cataract Point mutation Genetics Heredity Case reports |
description |
ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5’UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082017000400492 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/s1679-45082017rc4006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
dc.source.none.fl_str_mv |
einstein (São Paulo) v.15 n.4 2017 reponame:Einstein (São Paulo) instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) instacron:IIEPAE |
instname_str |
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
instacron_str |
IIEPAE |
institution |
IIEPAE |
reponame_str |
Einstein (São Paulo) |
collection |
Einstein (São Paulo) |
repository.name.fl_str_mv |
Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
repository.mail.fl_str_mv |
||revista@einstein.br |
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1752129909144158208 |