Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome

Sakamoto, Osamu; Kitoh, Toshiyuki; Ohura, Toshihiro; Ohya, Noriaki; Iinuma, Kazuie

doi:10.1007/s100380200030

Cited by 13 publications

(5 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…None of our patients exhibited cyclic neutropenia as described in the 1990s [1,26,33,35]. ANC is unpredictable in BTHS in that a single normal ANC count in male infants with cardiomyopathy does not exclude BTHS.…”

Section: Discussionmentioning

confidence: 60%

Natural history of Barth syndrome: a national cohort study of 22 patients

Rigaud

Lèbre

Touraine

et al. 2013

Orphanet J Rare Dis

110

151

View full text Add to dashboard Cite

BackgroundThis study describes the natural history of Barth syndrome (BTHS).MethodsThe medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.ResultsWe identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2–2.3). The median age at presentation was 3.1 weeks (range, 0–1.4 years), and the median age at last follow-up was 4.75 years (range, 3–15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, and cardiomyopathy was documented in 20 during follow-up. Left ventricular systolic function was very poor during the first year of life and tended to normalize over time. Nineteen patients had neutropenia. Metabolic investigations revealed inconstant moderate 3-methylglutaconic aciduria and plasma arginine levels that were reduced or in the low-normal range. Survival correlated with two prognostic factors: severe neutropenia at diagnosis (<0.5 × 109/L) and birth year. Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000.ConclusionsThis survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia. Modern management of heart failure and prevention of infection in infancy may improve the survival of patients with BTHS without the need for heart transplantation.

show abstract

Section: Discussionmentioning

confidence: 60%

Natural history of Barth syndrome: a national cohort study of 22 patients

Rigaud

Lèbre

Touraine

et al. 2013

Orphanet J Rare Dis

110

151

View full text Add to dashboard Cite

show abstract

“…3 ). Mutation of Arg 94 in human tafazzin, corresponding to Arg 101 in Y. lipolytica , causes Barth syndrome ( 54 ). Mutation of the strictly conserved Ser 71 (78 in Y. lipolytica ) close to the catalytically active histidine also results in Barth syndrome, most likely by interference with the active site.…”

Section: Resultsmentioning

confidence: 99%

Insights into complex I assembly: Function of NDUFAF1 and a link with cardiolipin remodeling

et al. 2022

View full text Add to dashboard Cite

Respiratory complex I is a ~1-MDa proton pump in mitochondria. Its structure has been revealed in great detail, but the structural basis of its assembly, in humans involving at least 15 assembly factors, is essentially unknown. We determined cryo–electron microscopy structures of assembly intermediates associated with assembly factor NDUFAF1 in a yeast model system. Subunits ND2 and NDUFC2 together with assembly factors NDUFAF1 and CIA84 form the nucleation point of the NDUFAF1-dependent assembly pathway. Unexpectedly, the cardiolipin remodeling enzyme tafazzin is an integral component of this core complex. In a later intermediate, all 12 subunits of the proximal proton pump module have assembled. NDUFAF1 locks the central ND3 subunit in an assembly-competent conformation, and major rearrangements of central subunits are required for complex I maturation.

show abstract

“…However, it is noted that BTHS not displaying elevated 3-MGCA may be more common than reported, in that there is considerable variability in laboratory methods used to detect 3-MGCA. There is also noteworthy variability seen in two very similar cases reported by Brady et al in 2006 andSakamoto et al in 2002. Brady presented a proband with an Arg94His missense mutation in exon 3 with dilated cardiomyopathy, neutropenia, and no organic aciduria leading to death within 12 days, while Sakamoto reported an Arg94Ser missense mutation in exon 3 in a functioning 17-year-old boy with cardiac manifestations, organic aciduria, and a normal neutrophil count.…”

Section: Discussionmentioning

confidence: 88%