A novel mutation of ATP7B gene in a case of wilson disease

Cigdem Yuce Kahraman; Ali Islek; Abdulgani Tatar; Özlem Özdemir; Adil Mardinglu; Hasan Turkez

doi:10.3390/medicina57020123

A novel mutation of ATP7B gene in a case of wilson disease

Cigdem Yuce Kahraman, Ali Islek, Abdulgani Tatar, Özlem Özdemir, Adil Mardinglu^*, Hasan Turkez

^*Corresponding author for this work

Centre for Host Microbiome Interactions

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder char-acterized 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.

Original language	English
Article number	123
Pages (from-to)	1-5
Number of pages	5
Journal	Medicina (Lithuania)
Volume	57
Issue number	2
DOIs	https://doi.org/10.3390/medicina57020123
Publication status	Published - Feb 2021

Keywords

ATP7B
Copper
Liver failure
Novel mutation
Rare disorder
Wilson disease

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "A novel mutation of ATP7B gene in a case of wilson disease",

abstract = "Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder char-acterized 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.",

keywords = "ATP7B, Copper, Liver failure, Novel mutation, Rare disorder, Wilson disease",

author = "Kahraman, {Cigdem Yuce} and Ali Islek and Abdulgani Tatar and {\"O}zlem {\"O}zdemir and Adil Mardinglu and Hasan Turkez",

note = "Funding Information: A.M. would like to thank Knut and Alice Wallenberg Foundation. Publisher Copyright: {\textcopyright} 2021 by the authors. Licensee MDPI, Basel, Switzerland. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",

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AU - Tatar, Abdulgani

AU - Özdemir, Özlem

AU - Mardinglu, Adil

AU - Turkez, Hasan

N1 - Funding Information: A.M. would like to thank Knut and Alice Wallenberg Foundation. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

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N2 - Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder char-acterized 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.

AB - Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder char-acterized 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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A novel mutation of ATP7B gene in a case of wilson disease

Abstract

Keywords

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