Barth Syndrome: Different Approaches to Diagnosis - 16/12/17
Doi : 10.1016/j.jpeds.2017.09.075
Atsuko Imai-Okazaki, MD, PhD, MPH 1, 2, 3, Yoshihito Kishita, PhD 4, Masakazu Kohda, PhD 5, Yukiko Yatsuka, MS 4, Tomoko Hirata, MS 5, Yosuke Mizuno, PhD 4, Hiroko Harashima 6, Keiichi Hirono, MD, PhD 7, Fukiko Ichida, MD, PhD 7, Atsuko Noguchi, MD, PhD 8, Masayuki Yoshida, MD, PhD 9, Chiho Tokorodani, MD 10, Ritsuo Nishiuchi, MD, PhD 10, Atsuhito Takeda, MD, PhD 11, Akihiro Nakaya, PhD 1, Yasushi Sakata, MD, PhD 2, Kei Murayama, MD, PhD 12, Akira Ohtake, MD, PhD 6, 13, Yasushi Okazaki, MD, PhD 4, 5, * 
1 Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan
2 Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan
3 Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan
4 Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan
5 Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan
6 Department of Pediatrics, Saitama Medical University, Saitama, Japan
7 Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
8 Department of Pediatrics, Graduate School of Medicine, Akita University, Akita, Japan
9 Department of Molecular Pathology and Tumor Pathology, Graduate School of Medicine, Akita University, Akita, Japan
10 Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan
11 Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Hokkaido, Japan
12 Department of Metabolism, Chiba Children's Hospital, Chiba, Japan
13 Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan
*Reprint requests: Yasushi Okazaki, MD, PhD, Research Center for Genomic Medicine, Saitama Medical University, 1397-1, Yamane, Hidaka City, Saitama 350-1241, Japan.Research Center for Genomic MedicineSaitama Medical University1397-1, Yamane, Hidaka CitySaitama350-1241Japan
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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.
Le texte complet de cet article est disponible en PDF.Keywords : Barth syndrome, TAZ gene, dilated cardiomyopathy, whole exome sequencing, mitochondrial disease, sudden cardiac death
Abbreviations : CL, ETC, MLCL, RT-PCR
Plan
| Supported by JSPS KAKENHI (JP16K19404), a grant from the Strategic Research Center in Private Universities from MEXT, Japan, and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development, AMED. The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
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