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

被引：12

作者：

Yamamoto, Takuma ^{[1
]}

Mishima, Hiroyuki ^{[2
]}

Mizukami, Hajime ^{[3
,4
]}

Fukahori, Yuki ^{[1
]}

Umehara, Takahiro ^{[1
]}

Murase, Takehiko ^{[1
]}

Kobayashi, Masamune ^{[5
]}

Mori, Shinjiro ^{[4
]}

Nagai, Tomonori ^{[4
]}

Fukunaga, Tatsushige ^{[4
]}

Yamaguchi, Seiji ^{[6
]}

Yoshiura, Koh-Ichiro ^{[2
]}

Ikematsu, Kazuya ^{[1
]}

机构：

[1] Nagasaki Univ, Sch Med, Grad Sch Biomed Sci, Course Med & Dent Sci,Div Forens Pathol & Sci,Uni, 1-12-4 Sakamoto, Nagasaki 8528523, Japan

[2] Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

[3] Kanazawa Med Univ, Dept Legal Med, Uchinada, Ishikawa 9200293, Japan

[4] Tokyo Metropolitan Govt, Tokyo Med Examiners Off, Tokyo 1120012, Japan

[5] Tokyo Med Univ, Dept Forens Med, Tokyo 1608402, Japan

[6] Shimane Univ, Fac Med, Dept Pediat, Shimane 6938501, Japan

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2015年 / 5卷

关键词：

Sudden unexpected death in infancy; Metabolic autopsy; Next generation sequencing; Fatty acid oxidation disorder; Carnitine palmitoyltransferase II deficiency;

D O I：

10.1016/j.ymgmr.2015.09.005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The recent introduction of metabolic autopsy in the field of forensic science hasmade it possible to detect hidden inheritedmetabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to performmetabolic 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. (C) 2015 The Authors. Published by Elsevier Inc.

引用

页码：26 / 32

页数：7

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