Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

Larysa Sivitskaya; Nina Danilenko; Iryna Motuk; Nikolai Zhelev

doi:10.36185/2532-1900-047

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

Larysa Sivitskaya
, Nina Danilenko
, Iryna Motuk
, Nikolai Zhelev (Lead / Corresponding author)

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

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Abstract

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers.

Original language	English
Pages (from-to)	88-92
Number of pages	5
Journal	Acta Myologica
Volume	40
Issue number	2
DOIs	https://doi.org/10.36185/2532-1900-047
Publication status	Published - Jun 2021

Keywords

Barth syndrome
TAZ
aberrant splicing
dilated cardiomyopathy
exon skipping

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.36185/2532-1900-047Licence: CC BY-NC-ND

Final Published VersionFinal published version, 466 KBLicence: CC BY-NC-ND

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title = "Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome",

abstract = "Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1\_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1\_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers.",

keywords = "Barth syndrome, TAZ, aberrant splicing, dilated cardiomyopathy, exon skipping",

author = "Larysa Sivitskaya and Nina Danilenko and Iryna Motuk and Nikolai Zhelev",

note = "This work was supported by National Academy of Sciences of Belarus through Scientific and Technical Program “DNA-identification”, research grant DNA/2017-6.6. {\textcopyright}2021 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.",

year = "2021",

month = jun,

doi = "10.36185/2532-1900-047",

language = "English",

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pages = "88--92",

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T1 - Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

AU - Sivitskaya, Larysa

AU - Danilenko, Nina

AU - Motuk, Iryna

AU - Zhelev, Nikolai

N1 - This work was supported by National Academy of Sciences of Belarus through Scientific and Technical Program “DNA-identification”, research grant DNA/2017-6.6. ©2021 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.

PY - 2021/6

Y1 - 2021/6

N2 - Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers.

AB - Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers.

KW - Barth syndrome

KW - TAZ

KW - aberrant splicing

KW - dilated cardiomyopathy

KW - exon skipping

UR - https://www.scopus.com/pages/publications/85113373410

U2 - 10.36185/2532-1900-047

DO - 10.36185/2532-1900-047

M3 - Article

C2 - 34355125

SN - 1128-2460

VL - 40

SP - 88

EP - 92

JO - Acta Myologica

JF - Acta Myologica

IS - 2

ER -

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

Abstract

Keywords

ASJC Scopus subject areas

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