The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies

Patrizia D'Adamo, Lucia Fassone, Agi Gedeon, Emiel A M Janssen, Silvia Bione, Pieter A. Bolhuis, Peter G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew J. Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review


Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation and hypertrophy is a constant finding and is the most common cause of death in the first months of life. X-linked cardiomyopathies with clinical manifestations similar to BTHS have been reported, and it has been proposed that they may be allelic. We have recently identified the gene responsible for BTHS, in one of the Xq28 genes, G4.5. In this paper we report the sequence analysis of 11 additional familial cases: 8 were diagnosed as possibly affected with BTHS, and 3 were affected with X-linked dilated cardiomyopathies. Mutations in the G4.5 gene were found in nine of the patients analyzed. The molecular studies have linked together what were formerly considered different conditions and have shown that the G4.5 gene is responsible for BTHS (OMIM 302060), X-linked endocardial fibroelastosis (OMIM 305300), and severe X-linked cardiomyopathy (OMIM 300069). Our results also suggest that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a 'less severe' phenotype.

Original languageEnglish
Pages (from-to)862-867
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - Oct 1997

ASJC Scopus subject areas

  • Genetics


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