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

Yamamoto, Takuma; Mishima, Hiroyuki; Mizukami, Hajime; Fukahori, Yuki; Umehara, Takahiro; Murase, Takayuki; Kobayashi, Minoru; Mori, Shigeo; Nagai, Tatsuo; Fukunaga, Tetsuo; Yamaguchi, Seiji; Yoshiura, Koh-ichiro; Ikematsu, Kazuya

doi:10.1016/j.ymgmr.2015.09.005

Cited by 18 publications

(15 citation statements)

References 35 publications

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“…Recent molecular autopsy studies have identified inherited metabolic disease and arrhythmia as a possible cause of SUD, but in Japan there have been few studies on sudden infant death (Table ). In our previous metabolic autopsy and arrhythmia‐related molecular autopsy studies, we noted that some cases of SUD were caused by these diseases, but only a small number of cases involved disease‐causing gene variants, and most cases were not explained by mutations of these genes.…”

Section: Single Nucleotide Variants: Genotype Distribution Vs Sud Statusmentioning

confidence: 95%

No association between cardiac ion channel variants and sudden infant death

Yamamoto

Matsusue

Umehara

et al. 2018

Pediatrics International

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Section: Single Nucleotide Variants: Genotype Distribution Vs Sud Statusmentioning

confidence: 95%

No association between cardiac ion channel variants and sudden infant death

Yamamoto

Matsusue

Umehara

et al. 2018

Pediatrics International

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“…From the 17 undiagnosed cases, 9 patients’ parents gave consent for whole-genome sequencing. One of the nine cases was diagnosed with carnitine palmitoyltransferase II deficiency by metabolic autopsy 26 . In another case, we could not extract a sufficient amount of DNA for targeted gene-sequencing panel analysis.…”

Section: Resultsmentioning

confidence: 99%

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Shingu

Murase

Yamamoto

et al. 2021

Sci Rep

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In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death. However, it is difficult to accurately interpret the clinically significant genetic variants. The study aim was to conduct trio analysis of cases of sudden unexpected death in infancy and their parents to more accurately interpret the clinically significant disease-associated gene variants associated with cause of death. From the TruSight One panel targeting 4813 genes we extracted candidate genetic variants of 66 arrhythmia-, 63 inherited metabolic disease-, 81 mitochondrial disease-, and 6 salt-losing tubulopathy-related genes in 7 cases and determined if they were de novo or parental-derived variants. Thirty-four parental-derived variants and no de novo variants were found, but none appeared to be related to the cause of death. Using trio analysis and an in silico algorithm to analyze all 4813 genes, we identified OBSCN of compound heterozygous and HCCS of hemizygous variants as new candidate genetic variants related to cause of death. Genetic analysis of these deceased infants and their living parents can provide more accurate interpretation of the clinically significant genetic variants than previously possible and help confirm the cause of death.

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“…[20,21] Tests for assessing inherited metabolic disorders were conducted nationwide in the routine examination for newborns. [22] Genetic testing for arrhythmic disorders was also conducted for cases examined in this study. [23] Data used for analysis consisted of DSI information, therapeutic information in emergency care, and maternity passbook.…”

Section: Methodsmentioning

confidence: 99%

Circumstances and factors of sleep-related sudden infancy deaths in Japan

et al. 2020

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Background Sudden unexpected death in infancy (SUDI) comprises both natural and unnatural causes of death. However, few epidemiological surveys have investigated SUDI in Japan. Objective This retrospective study was conducted to investigate the latest trends of circumstances and risk factors of SUDI cases in which collapse occurred during sleep. Methods Forensic pathology sections from eight universities participated in the selection of subjects from 2013 to 2018. Data obtained from the checklist form were analyzed based on information at postmortem. Results There were 259 SUDI cases consisting of 145 male infants and 114 female infants with a mean birth weight of 2888 ± 553 and 2750 ± 370 g, respectively. Deaths most frequently occurred among infants at 1 month of age (18%). According to population data as the control, the odds ratio (95% confidence interval) of mother's age �19 years was 11.1 (6.9-17.7) compared with ages 30-39. The odds ratio for the fourth-and later born infants was 5.2 (3.4-7.9) compared with the frequency of first-born infants. The most frequent time of day for discovery was between 7 and 8 o'clock, and the time difference from the last seen alive was a mean of 4.1 h. Co-sleeping was recorded for 61%, and the prone position was found

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

Cited by 18 publications

References 35 publications

No association between cardiac ion channel variants and sudden infant death

No association between cardiac ion channel variants and sudden infant death

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Circumstances and factors of sleep-related sudden infancy deaths in Japan

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