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Updated: Feb 16, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Barth Syndrome: Different Approaches to Diagnosis
Atsuko Imai-Okazaki1, Yoshihito Kishita2, Masakazu Kohda3
1Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan.
Abstract:
The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.
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