Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors

Bibliographic Details
Main Author: Monte,Filipa
Publication Date: 2022
Other Authors: Garrido,Mónica, Guedes,Tiago Pereira, Reis,Joel, Porto,Graça, Pedroto,Isabel
Format: Report
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038
Summary: Abstract A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes - POLH and HFE - were identified, possibly the result of genetic linkage.
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spelling Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious NeighborsHereditary hemochromatosisHFEXeroderma pigmentosumPOLHLiver cirrhosisAbstract A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes - POLH and HFE - were identified, possibly the result of genetic linkage.Sociedade Portuguesa de Gastrenterologia2022-02-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038GE-Portuguese Journal of Gastroenterology v.29 n.1 2022reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038Monte,FilipaGarrido,MónicaGuedes,Tiago PereiraReis,JoelPorto,GraçaPedroto,Isabelinfo:eu-repo/semantics/openAccess2024-02-06T17:34:17Zoai:scielo:S2341-45452022000100038Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T13:21:07.748212Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
title Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
spellingShingle Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
Monte,Filipa
Hereditary hemochromatosis
HFE
Xeroderma pigmentosum
POLH
Liver cirrhosis
title_short Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
title_full Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
title_fullStr Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
title_full_unstemmed Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
title_sort Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors
author Monte,Filipa
author_facet Monte,Filipa
Garrido,Mónica
Guedes,Tiago Pereira
Reis,Joel
Porto,Graça
Pedroto,Isabel
author_role author
author2 Garrido,Mónica
Guedes,Tiago Pereira
Reis,Joel
Porto,Graça
Pedroto,Isabel
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Monte,Filipa
Garrido,Mónica
Guedes,Tiago Pereira
Reis,Joel
Porto,Graça
Pedroto,Isabel
dc.subject.por.fl_str_mv Hereditary hemochromatosis
HFE
Xeroderma pigmentosum
POLH
Liver cirrhosis
topic Hereditary hemochromatosis
HFE
Xeroderma pigmentosum
POLH
Liver cirrhosis
description Abstract A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes - POLH and HFE - were identified, possibly the result of genetic linkage.
publishDate 2022
dc.date.none.fl_str_mv 2022-02-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452022000100038
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 Sociedade Portuguesa de Gastrenterologia
publisher.none.fl_str_mv Sociedade Portuguesa de Gastrenterologia
dc.source.none.fl_str_mv GE-Portuguese Journal of Gastroenterology v.29 n.1 2022
reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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