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

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^*

^*この論文の責任著者

小児科学講座

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

16 被引用数 (Scopus)

抄録

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.

本文言語	英語
ページ（範囲）	256-260
ページ数	5
ジャーナル	The Journal of pediatrics
巻	193
DOI	https://doi.org/10.1016/j.jpeds.2017.09.075
出版ステータス	出版済み - 2018/02

ASJC Scopus 主題領域

小児科学、周産期医学および子どもの健康

文献へのアクセス

10.1016/j.jpeds.2017.09.075

引用スタイル

Imai-Okazaki, A., Kishita, Y., Kohda, M., Yatsuka, Y., Hirata, T., Mizuno, Y., Harashima, H., Hirono, K., Ichida, F., Noguchi, A., Yoshida, M., Tokorodani, C., Nishiuchi, R., Takeda, A., Nakaya, A., Sakata, Y., Murayama, K., Ohtake, A., & Okazaki, Y. (2018). Barth Syndrome: Different Approaches to Diagnosis. The Journal of pediatrics, 193, 256-260. https://doi.org/10.1016/j.jpeds.2017.09.075

@article{f5b205fe3de5431fbbf62c6994fbfd8d,

title = "Barth Syndrome: Different Approaches to Diagnosis",

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",

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

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2018",

month = feb,

doi = "10.1016/j.jpeds.2017.09.075",

language = "英語",

volume = "193",

pages = "256--260",

journal = "The Journal of pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

}

Imai-Okazaki, A, Kishita, Y, Kohda, M, Yatsuka, Y, Hirata, T, Mizuno, Y, Harashima, H, Hirono, K, Ichida, F, Noguchi, A, Yoshida, M, Tokorodani, C, Nishiuchi, R, Takeda, A, Nakaya, A, Sakata, Y, Murayama, K, Ohtake, A & Okazaki, Y 2018, 'Barth Syndrome: Different Approaches to Diagnosis', The Journal of pediatrics, vol. 193, pp. 256-260. https://doi.org/10.1016/j.jpeds.2017.09.075

TY - JOUR

T1 - Barth Syndrome

T2 - Different Approaches to Diagnosis

AU - Imai-Okazaki, Atsuko

AU - Kishita, Yoshihito

AU - Kohda, Masakazu

AU - Yatsuka, Yukiko

AU - Hirata, Tomoko

AU - Mizuno, Yosuke

AU - Harashima, Hiroko

AU - Hirono, Keiichi

AU - Ichida, Fukiko

AU - Noguchi, Atsuko

AU - Yoshida, Masayuki

AU - Tokorodani, Chiho

AU - Nishiuchi, Ritsuo

AU - Takeda, Atsuhito

AU - Nakaya, Akihiro

AU - Sakata, Yasushi

AU - Murayama, Kei

AU - Ohtake, Akira

AU - Okazaki, Yasushi

PY - 2018/2

Y1 - 2018/2

N2 - 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.

AB - 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.

KW - Barth syndrome

KW - TAZ gene

KW - dilated cardiomyopathy

KW - mitochondrial disease

KW - sudden cardiac death

KW - whole exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=85039432186&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2017.09.075

DO - 10.1016/j.jpeds.2017.09.075

M3 - 学術論文

C2 - 29249525

AN - SCOPUS:85039432186

SN - 0022-3476

VL - 193

SP - 256

EP - 260

JO - The Journal of pediatrics

JF - The Journal of pediatrics

ER -

Barth Syndrome: Different Approaches to Diagnosis

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