Barth Syndrome: Different Approaches to Diagnosis

Atsuko Imai-Okazaki; Yoshihito Kishita; Masakazu Kohda; Yukiko Yatsuka; Tomoko Hirata; Yosuke Mizuno; Hiroko Harashima; Keiichi Hirono; Fukiko Ichida; Atsuko Noguchi; Masayuki Yoshida; Chiho Tokorodani; Ritsuo Nishiuchi; Atsuhito Takeda; Akihiro Nakaya; Yasushi Sakata; Kei Murayama; Akira Ohtake; Yasushi Okazaki

doi:10.1016/j.jpeds.2017.09.075

Barth Syndrome: Different Approaches to Diagnosis

J Pediatr. 2018 Feb:193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15.

Authors

Atsuko Imai-Okazaki¹, Yoshihito Kishita², Masakazu Kohda³, Yukiko Yatsuka², Tomoko Hirata³, Yosuke Mizuno², Hiroko Harashima⁴, Keiichi Hirono⁵, Fukiko Ichida⁵, Atsuko Noguchi⁶, Masayuki Yoshida⁷, Chiho Tokorodani⁸, Ritsuo Nishiuchi⁸, Atsuhito Takeda⁹, Akihiro Nakaya¹⁰, Yasushi Sakata¹¹, Kei Murayama¹², Akira Ohtake¹³, Yasushi Okazaki¹⁴

Affiliations

¹ Department 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.
² Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
³ Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
⁴ Department of Pediatrics, Saitama Medical University, Saitama, Japan.
⁵ Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
⁶ Department of Pediatrics, Graduate School of Medicine, Akita University, Akita, Japan.
⁷ Department of Molecular Pathology and Tumor Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
⁸ Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
⁹ Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Hokkaido, Japan.
¹⁰ Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.
¹¹ Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
¹² Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
¹³ Department of Pediatrics, Saitama Medical University, Saitama, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
¹⁴ Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address: okazaki@saitama-med.ac.jp.

PMID: 29249525
DOI: 10.1016/j.jpeds.2017.09.075

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.

Keywords: Barth syndrome; TAZ gene; dilated cardiomyopathy; mitochondrial disease; sudden cardiac death; whole exome sequencing.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acyltransferases
Barth Syndrome / diagnosis*
Barth Syndrome / genetics
Exome Sequencing / methods
Humans
Infant
Infant, Newborn
Male
Mutation
Phenotype
Reverse Transcriptase Polymerase Chain Reaction / methods
Transcription Factors / genetics*

Substances

Transcription Factors
Acyltransferases
TAFAZZIN protein, human