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Article

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

Clinical genetics - 1 Nov 2016

Ferri L, Dionisi-Vici C, Taurisano R, Vaz F M, Guerrini R, Morrone A

Abstract excerpt

Barth syndrome (BTHS) is an X-linked inborn error of metabolism which affects males. The main manifestations are cardiomyopathy, myopathy, hypotonia, growth delay, intermittent neutropenia and 3-methylglutaconic aciduria. Diagnosis is confirmed by mutational analysis of the TAZ gene and biochemical dosage of the monolysocardiolipin/tetralinoleoyl cardiolipin (MLCL:L4-CL) ratio. We report a 6-year-old boy who...

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Identifiers

PMID: 26853223
DOI: 10.1111/cge.12756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.PMID 26853223Read ↗

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A synonymous variant is unmasked in thalassaemia.Semantic proximity Read ↗

Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.Semantic proximity Read ↗

Listening to silence and understanding nonsense: exonic mutations that affect splicing.Semantic proximity Read ↗

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome.Semantic proximity Read ↗

TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndromeSemantic proximity Read ↗

Defining functional classes of Barth syndrome mutation in humans.Semantic proximity Read ↗

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