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

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

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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 languageEnglish
Pages (from-to)88-92
Number of pages5
JournalActa Myologica
Volume40
Issue number2
DOIs
Publication statusPublished - Jun 2021

Keywords

  • Barth syndrome
  • TAZ
  • aberrant splicing
  • dilated cardiomyopathy
  • exon skipping

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