scholarly journals A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

2013 ◽  
pp. 99-106 ◽  
Author(s):  
Yuxin Fan ◽  
Jon Steller ◽  
Iris L. Gonzalez ◽  
Wim Kulik ◽  
Michelle Fox ◽  
...  
Keyword(s):  
Barth Syndrome ◽  
Splicing Mutation

Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

2013 ◽  
Author(s):  
Venturi Giacomo ◽  
Gandini Alberto ◽  
Monti Elena ◽  
Corradi Massimiliano ◽  
Vincenzi Monica ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Splicing Mutation

scholarly journals Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Chad Gwaltney ◽  
Jonathan Stokes ◽  
Anthony Aiudi ◽  
Iyar Mazar ◽  
Sarah Ollis ◽  
...  
Keyword(s):  
Clinical Studies ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Symptom Assessment ◽  
Barth Syndrome ◽  
Therapeutic Area ◽  
Symptom Experience ◽  
Patient Reported ◽  
Adolescents And Adults ◽  
Syndrome Symptom

Abstract Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate treatment effects in BTHS clinical studies. The objective of this research was to develop symptom-focused patient-reported outcome (PRO) measures for use in clinical studies with adolescents and adults with BTHS. Methods Concept elicitation interviews (CEIs) with pediatric (n = 18, age < 16 years) and adult (n = 15, age ≥ 16 years) individuals with BTHS and/or their caregivers were conducted to identify signs and symptoms relevant to BTHS and important to individuals with the condition. Based on CEI results, questionnaire construction activities were conducted to create unique adolescent and adult versions of the Barth Syndrome-Symptom Assessment (BTHS-SA). The questionnaires were evaluated in cognitive debriefing interviews (CDIs) with adolescents (n = 12; age 12- < 16 years) and adults (n = 12; age ≥ 16 years) with BTHS to assess relevance and readability of the tools. Results During the CEIs, a total of 48 and 40 signs and symptoms were reported by the pediatric and adult groups, respectively; 31 were reported by both age groups. Fatigue/tiredness and muscle weakness were the symptoms most frequently reported by both pediatric and adult patients with BTHS as important to improve with an effective treatment. The CEI results informed construction of a nine-item version of the BTHS-SA for adolescents and an eight-item version for adults. Developed for daily administration, each version asks respondents to rate symptom severity “at its worst” over the 24 h prior to administration. CDIs with both adolescents and adults with BTHS demonstrated that each BTHS-SA version was reflective of the disease experience and that respondents could interpret the questionnaire as intended and provide responses that accurately reflected their symptom experience. Conclusions The BTHS-SA adolescent and adult versions are content-valid PRO measures that can be used to evaluate severity of disease-specific symptoms in future clinical trials. Given the lack of available and well-developed assessments in this underserved therapeutic area, these tools fulfill a need for clinical researchers developing treatments for individuals with BTHS.

Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Joel A. Vanderniet ◽  
Paul Z. Benitez-Aguirre ◽  
Carolyn R. Broderick ◽  
Richard I. Kelley ◽  
Shanti Balasubramaniam
Keyword(s):  
Growth Hormone ◽  
Dilated Cardiomyopathy ◽  
Corn Starch ◽  
Primary Hypothyroidism ◽  
Barth Syndrome ◽  
Height Velocity ◽  
Growth Delay ◽  
Hormone Resistance ◽  
Feeding Difficulties ◽  
Growth Hormone Resistance

Abstract Objectives To describe the metabolic and endocrine features of a patient with Barth syndrome who showed evidence of growth hormone resistance. Case presentation A male proband deteriorated rapidly with lactic acidosis after a circumcision at age three weeks and was found to have severe dilated cardiomyopathy. A cardiomyopathy gene panel led to the diagnosis of TAZ-deficiency Barth syndrome. He subsequently experienced hypotonia and gross motor delay, feeding difficulties for the first four years, constitutional growth delay and one episode of ketotic hypoglycaemia. Cardiomyopathy resolved on oral anti-failure therapy by age three years. He had a hormonal pattern of growth hormone resistance, and growth hormone treatment was considered, however height velocity improved spontaneously after age 3½ years. He also had biochemical primary hypothyroidism. Conclusions With careful metabolic management with l-arginine supplementation, overnight corn starch, and a prescribed exercise program, our patient’s strength, endurance, level of physical activity and body composition improved significantly by age six years.

A case undergoing cocktail therapy for cardiac involvement in Barth syndrome

2020 ◽  
Vol 62 (12) ◽  
pp. 1393-1395
Author(s):  
Jiro Abe ◽  
Takeshi Yamaguchi ◽  
Maki Matsuzawa ◽  
Ichiro Kobayashi ◽  
Atsuhito Takeda
Keyword(s):  
Cardiac Involvement ◽  
Barth Syndrome

scholarly journals AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome

2020 ◽  
Vol 126 (8) ◽  
pp. 1024-1039 ◽  
Author(s):  
Suya Wang ◽  
Yifei Li ◽  
Yang Xu ◽  
Qing Ma ◽  
Zhiqiang Lin ◽  
...  
Keyword(s):  
Heart Failure ◽  
Gene Therapy ◽  
Barth Syndrome ◽  
Knockout Model

CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss

Gene ◽  
2019 ◽  
Vol 703 ◽  
pp. 83-90 ◽  
Author(s):  
Nari Ryu ◽  
Min-A Kim ◽  
Deok-Gyun Choi ◽  
Ye-Ri Kim ◽  
Jong Kyung Sonn ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genome Editing ◽  
Splicing Mutation ◽  
Congenital Hearing Loss

scholarly journals Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies

2020 ◽  
Vol 1866 (8) ◽  
pp. 165803
Author(s):  
Edoardo Bertero ◽  
Ilona Kutschka ◽  
Christoph Maack ◽  
Jan Dudek
Keyword(s):  
Barth Syndrome
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