Barth Syndrome: Different Approaches to Diagnosis.

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

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

Afiliação

Imai-Okazaki A; Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Med
Kishita Y; Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Kohda M; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Yatsuka Y; Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Hirata T; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Mizuno Y; Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Harashima H; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
Hirono K; Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
Ichida F; Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
Noguchi A; Department of Pediatrics, Graduate School of Medicine, Akita University, Akita, Japan.
Yoshida M; Department of Molecular Pathology and Tumor Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
Tokorodani C; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Nishiuchi R; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Takeda A; Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Hokkaido, Japan.
Nakaya A; Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.
Sakata Y; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Ohtake A; Department of Pediatrics, Saitama Medical University, Saitama, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Okazaki Y; Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address: okazaki@saitama-med.ac.jp.

J Pediatr ; 193: 256-260, 2018 02.

Article em En | MEDLINE | ID: mdl-29249525

ABSTRACT

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.

Assuntos

Síndrome de Barth/diagnóstico; Fatores de Transcrição/genética; Aciltransferases; Síndrome de Barth/genética; Humanos; Lactente; Recém-Nascido; Masculino; Mutação; Fenótipo; Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos; Sequenciamento do Exoma/métodos

Palavras-chave

Barth syndrome; TAZ gene; dilated cardiomyopathy; mitochondrial disease; sudden cardiac death; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Síndrome de Barth Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2018 Tipo de documento: Article

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