Simple view
Full metadata view
Authors
Statistics
A novel "TAZ" gene mutation and mosaicism in a Polish family with Barth syndrome
Barth Syndrome
cardiomyopathy
TAZ gene
tafazzin
inherited mosaicism
Barth syndrome (BTHS) is an X‐linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3‐methylglutaconic aciduria, growth retardation and respiratory chain dysfunction. It is caused by mutations in the TAZ gene coding for the tafazzin protein which is responsible for cardiolipin remodeling. In this work, we present a novel pathogenic TAZ mutation c.83T>A, p.Val28Glu, found in mosaic form in almost all female members of a Polish family. Sanger sequencing of DNA from peripheral blood and from epithelial cells showed female mosaicism in three generations. This appears to be a new mechanism of inheritance and further research is required in order to understand the mechanism of this mosaicism. We conclude that BTHS genetic testing should include two or more tissues for women that appear to be noncarriers when blood DNA is initially tested. The results of our study should not only be applicable to BTHS families, but also to families with other X‐linked diseases.
cris.lastimport.scopus | 2024-04-07T16:42:30Z | |
dc.abstract.en | Barth syndrome (BTHS) is an X‐linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3‐methylglutaconic aciduria, growth retardation and respiratory chain dysfunction. It is caused by mutations in the TAZ gene coding for the tafazzin protein which is responsible for cardiolipin remodeling. In this work, we present a novel pathogenic TAZ mutation c.83T>A, p.Val28Glu, found in mosaic form in almost all female members of a Polish family. Sanger sequencing of DNA from peripheral blood and from epithelial cells showed female mosaicism in three generations. This appears to be a new mechanism of inheritance and further research is required in order to understand the mechanism of this mosaicism. We conclude that BTHS genetic testing should include two or more tissues for women that appear to be noncarriers when blood DNA is initially tested. The results of our study should not only be applicable to BTHS families, but also to families with other X‐linked diseases. | pl |
dc.affiliation | Wydział Lekarski : Zakład Diagnostyki | pl |
dc.affiliation | Wydział Lekarski : Zakład Diagnostyki Genetycznej i Nutrigenomiki | pl |
dc.affiliation | Wydział Lekarski : Zakład Biochemii Klinicznej | pl |
dc.cm.date | 2020-01-07 | |
dc.cm.id | 72360 | |
dc.contributor.author | Zapała, Barbara - 161591 | pl |
dc.contributor.author | Płatek, Teresa - 200492 | pl |
dc.contributor.author | Wybrańska, Iwona - 133859 | pl |
dc.date.accessioned | 2020-01-17T08:48:28Z | |
dc.date.available | 2020-01-17T08:48:28Z | |
dc.date.issued | 2015 | pl |
dc.date.openaccess | 0 | |
dc.description.accesstime | w momencie opublikowania | |
dc.description.number | 3 | pl |
dc.description.physical | 218-224 | pl |
dc.description.points | 25 | pl |
dc.description.version | ostateczna wersja wydawcy | |
dc.description.volume | 79 | pl |
dc.identifier.doi | 10.1111/ahg.12108 | pl |
dc.identifier.eissn | 1469-1809 | pl |
dc.identifier.issn | 0003-4800 | pl |
dc.identifier.project | ROD UJ / OP | pl |
dc.identifier.uri | https://ruj.uj.edu.pl/xmlui/handle/item/135439 | |
dc.language | eng | pl |
dc.language.container | eng | pl |
dc.rights | Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 4.0 Międzynarodowa | * |
dc.rights.licence | CC-BY-NC-ND | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/legalcode.pl | * |
dc.share.type | inne | |
dc.subject.en | Barth Syndrome | pl |
dc.subject.en | cardiomyopathy | pl |
dc.subject.en | TAZ gene | pl |
dc.subject.en | tafazzin | pl |
dc.subject.en | inherited mosaicism | pl |
dc.subtype | Article | pl |
dc.title | A novel "TAZ" gene mutation and mosaicism in a Polish family with Barth syndrome | pl |
dc.title.journal | Annals of Human Genetics | pl |
dc.type | JournalArticle | pl |
dspace.entity.type | Publication |
* The migration of download and view statistics prior to the date of April 8, 2024 is in progress.
Views
0
Views per month
Open Access