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A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical pres...

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Autores principales: Kahraman, Cigdem Yuce, Islek, Ali, Tatar, Abdulgani, Özdemir, Özlem, Mardinglu, Adil, Turkez, Hasan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912016/
https://www.ncbi.nlm.nih.gov/pubmed/33573009
http://dx.doi.org/10.3390/medicina57020123
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author Kahraman, Cigdem Yuce
Islek, Ali
Tatar, Abdulgani
Özdemir, Özlem
Mardinglu, Adil
Turkez, Hasan
author_facet Kahraman, Cigdem Yuce
Islek, Ali
Tatar, Abdulgani
Özdemir, Özlem
Mardinglu, Adil
Turkez, Hasan
author_sort Kahraman, Cigdem Yuce
collection PubMed
description Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.
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spelling pubmed-79120162021-02-28 A Novel Mutation of ATP7B Gene in a Case of Wilson Disease Kahraman, Cigdem Yuce Islek, Ali Tatar, Abdulgani Özdemir, Özlem Mardinglu, Adil Turkez, Hasan Medicina (Kaunas) Case Report Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients. MDPI 2021-01-29 /pmc/articles/PMC7912016/ /pubmed/33573009 http://dx.doi.org/10.3390/medicina57020123 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kahraman, Cigdem Yuce
Islek, Ali
Tatar, Abdulgani
Özdemir, Özlem
Mardinglu, Adil
Turkez, Hasan
A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title_full A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title_fullStr A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title_full_unstemmed A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title_short A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
title_sort novel mutation of atp7b gene in a case of wilson disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912016/
https://www.ncbi.nlm.nih.gov/pubmed/33573009
http://dx.doi.org/10.3390/medicina57020123
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