Barth syndrome in a female patient

Cosson, Laure; Toutain, Annick; Simard, Gilles; Kulik, Willem; Mátyás, Gábor; Guichet, Agnès; Blasco, Hélène; Maakaroun-Vermesse, Zoha; Vaillant, M.C.; Caignec, Cédric Le; Chantepîe, A.; Labarthe, François

doi:10.1016/j.ymgme.2012.01.015

Cited by 49 publications

(45 citation statements)

References 20 publications

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“…It is however theoretically possible for a female to develop symptoms of the disease because of impaired X chromosome inactivation. The only female ever described with the disease had abnormalities of both X chromosomes [21]. In this case, the proband, her mother and maternal grandmother had normal electrocardiograms and no history of cardiac disease.…”

Section: Discussionmentioning

confidence: 95%

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Bakšienė

Benušienė

Morkūnienė

et al. 2016

Balkan Journal of Medical Genetics

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Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

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Section: Discussionmentioning

confidence: 95%

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Bakšienė

Benušienė

Morkūnienė

et al. 2016

Balkan Journal of Medical Genetics

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“…Genomic DNA was extracted from blood using standard procedures. The coding sequence and exon-intron boundaries of the TAZ gene were amplified by polymerase chain reaction (PCR) using primers and conditions that are described elsewhere [4,22]. The TAZ mutations were numbered as recommended by the Human Genome Variation Society (http://www.hgvs.org/) using the reference sequence NM_000116.3.…”

Section: Design and Methodsmentioning

confidence: 99%

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

Rigaud

Lèbre

Touraine

et al. 2013

Orphanet J Rare Dis

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108

151

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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.

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“…Although it is theoretically possible for a female to manifest symptoms of BTHS due to skewed X-inactivation, the only female ever described with the disease had abnormalities of both X chromosomes [19]. One was a ring form with a large deletion of the long arm (including the Xq28 region) and the second had a large deletion of exons 1–5 of TAZ .…”

Section: Reviewmentioning

confidence: 99%

Barth syndrome

Clarke

Bowron

Gonzalez

et al. 2013

Orphanet J Rare Dis

292

392

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First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.

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Barth syndrome in a female patient

Cited by 49 publications

References 20 publications

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

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

Barth syndrome

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