Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

Takuma Yamamoto; Hiroyuki Mishima; Hajime Mizukami; Yuki Fukahori; Takahiro Umehara; Takehiko Murase; Masamune Kobayashi; Shinjiro Mori; Tomonori Nagai; Tatsushige Fukunaga; Seiji Yamaguchi; Koh-ichiro Yoshiura; Kazuya Ikematsu

doi:10.1016/j.ymgmr.2015.09.005

Molecular Genetics and Metabolism Reports (Dec 2015)

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

Takuma Yamamoto,
Hiroyuki Mishima,
Hajime Mizukami,
Yuki Fukahori,
Takahiro Umehara,
Takehiko Murase,
Masamune Kobayashi,
Shinjiro Mori,
Tomonori Nagai,
Tatsushige Fukunaga,
Seiji Yamaguchi,
Koh-ichiro Yoshiura,
Kazuya Ikematsu

Affiliations

Takuma Yamamoto: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan
Hiroyuki Mishima: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan
Hajime Mizukami: Department of Legal Medicine, Kanazawa Medical University, Ishikawa 920-0293, Japan
Yuki Fukahori: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan
Takahiro Umehara: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan
Takehiko Murase: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan
Masamune Kobayashi: Department of Forensic Medicine, Tokyo Medical University, Tokyo 160-8402, Japan
Shinjiro Mori: Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan
Tomonori Nagai: Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan
Tatsushige Fukunaga: Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, Tokyo 112-0012, Japan
Seiji Yamaguchi: Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, Japan
Koh-ichiro Yoshiura: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8523, Japan
Kazuya Ikematsu: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan

DOI: https://doi.org/10.1016/j.ymgmr.2015.09.005
Journal volume & issue: Vol. 5, no. C
pp. 26 – 32

Abstract

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The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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