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1. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Author

Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, and Yoshiyuki Takahashi

Subjects
Medicine, Science
Abstract

Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TOKAI-IRUD). This study included only patients who had not previously received genome-wide testing. Review meetings with specialists in various medical fields were held to evaluate the genetic diagnosis in each case, which was based on the guidelines of the American College of Medical Genetics and Genomics. WES identified diagnostic single-nucleotide variants in 66 patients and copy number variants (CNVs) in 11 patients. Additionally, a patient was diagnosed with Angelman syndrome with a complex clinical phenotype upon detection of a paternally derived uniparental disomy (UPD) [upd(15)pat] wherein the patient carried a homozygous DUOX2 p.E520D variant in the UPD region. Functional analysis confirmed that this DUOX2 variant was a loss-of-function missense substitution and the primary cause of congenital hypothyroidism. A significantly higher proportion of genetic diagnoses was achieved compared to previous reports (44%, 78/177 vs. 24–35%, respectively), probably due to detailed discussions and the higher rate of CNV detection.

Published
2022
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2. Two Cases of Juvenile Myelomonocytic Leukemia and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease

Author

Hiroyuki Yamamoto, Jun Natsume, Kimihiko Kaneko, Toshiyuki Takahashi, Manabu Wakamatsu, Chikako Ogawa, Sumire Kumai, Ryosuke Suzui, Fumi Sawamura, Anna Shiraki, Tomohiko Nakata, Hiroyuki Kidokoro, Hideki Muramatsu, and Yoshiyuki Takahashi

Subjects
Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)
Published
2023
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3. Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal

Author

Khadar Abdi, Ramy Abramsky, Nickie Andescavage, Jephté Bambi, Sudeepta Basu, Cynthia Bearer, Eric J. Benner, Thérèse Biselele, Nikolay Bliznyuk, Jeroen Breckpot, Galen Carey, Agnes Chao, Line Iadsatian Christiansen, Silvia Comani, Pierpaolo Croce, Maarten De Vos, Anneleen Dereymaeker, Laura Dubois, Amelia J. Eisch, Adrian Epstein, Neta Geva, Yael Geva, Marc Gewillig, Sheyenne Gillis, Ronald N. Goldberg, Magnus Gram, Simon Gregory, Danielle Guez-Barber, Masahiro Hayakawa, Nicole Lind Henriksen, Tim Hermans, Reli Hershkovitz, Kristine Holgersen, Bo Holmqvist, Vaibhav Jain, Katrien Jansen, Vinay Kandula, Kushal Kapse, Masahiro Kawaguchi, Abdulhafeez Khair, Mohammad Khazaei, Hiroyuki Kidokoro, Frederico C. Kiffer, Katherine Kisilewicz, Sumire Kumai, Helene Lacaille, David Ley, Catherine Limperopoulos, Sandy Ebba Hallengreen Lindholm, Prosper Lukusa, Rebecca Lundberg, Peter MacFarlane, Pavle Matak, Laetitia Mavinga, Catherine Mayer, Gloire Mbayabo, Takamasa Mitsumatsu, Gerrye Mubungu, Jonathan Murnick, Tomohiko Nakata, Hajime Narita, Parvathi Nataraj, Jun Natsume, Gunnar Naulaers, Rahul Nikam, Niklas Ortenlöf, Katherine Ottolini, Xiaoyu Pan, Stanislava Pankratova, Kelly Pegram, Anna A. Penn, Subechhya Pradhan, Khadijeh Raeisi, Nicholas Rickman, Blaire Rikard, Reut Rotem, Per Torp Sangild, Yoshiaki Sato, Fumi Sawamura, Eilon Shany, Ilan Shelef, Anna Shiraki, Laura Smets, Livia Sura, Ryosuke Suzui, Takeshi Suzuki, Bruno-Paul Tady, Gentaro Taga, Gabriella Tamburro, Liesbeth Thewissen, J. Will Thompson, Thomas Thymann, Cansu Tokat, Claire-Marie Vacher, Cyndi Valdes, Suvi Vallius, Sergei Vatolin, Hama Watanabe, Adi Yehuda Weintraub, Michael Weiss, Hiroyuki Yamamoto, Salem Shimrit Yaniv, Noelle Younge, Sanghee Yun, and Filippo Zappasodi

Subjects
Pediatrics, Perinatology and Child Health
Published
2022
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4. The eldest case of MICPCH with CASK mutation exhibiting gross motor regression

Author

Shinya Hara, Tomohiko Nakata, Yosuke Nishio, Kotaro Narita, Tadashi Kaname, Fumi Sawamura, Hajime Narita, Yoshihiko Kawano, Hideki Muramatsu, Toshiki Takeo, Hiroyuki Kidokoro, and Jun Natsume

Subjects
Pediatrics, medicine.medical_specialty, Microcephaly, business.industry, Gross motor skill, Pontocerebellar hypoplasia, Rett syndrome, General Medicine, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Global developmental delay, CASK, business, Developmental regression, Cerebellar hypoplasia, 030217 neurology & neurosurgery
Abstract

Background MICPCH is manifested as microcephaly associated with pontocerebellar hypoplasia and global developmental delay but developmental regression has never been reported. We describe the detailed clinical history of a woman with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) with a CASK mutation who exhibited gross motor regression after adolescence. Case: The patient experienced severe motor and intellectual developmental delay with microcephaly from infancy. The initial diagnosis was Rett syndrome based on her clinical features, including hand stereotypes and the absence of structural abnormality on magnetic resonance imaging (MRI) performed at the age of 5 years. Although gross motor abilities developed slowly and she could walk independently, she never acquired speech or understanding of languages. After adolescence, her motor ability gradually regressed so that she was unable to stand without support and moved with a wheelchair. At the age of 31 years, because of her atypical clinical course for Rett syndrome, whole exome sequencing was performed, which revealed a de novo heterozygous c.2068 + 1G > A mutation in the CASK gene (NM_001126055). Brain MRI revealed mild pontocerebellar hypoplasia compatible with the clinical phenotype of MICPCH. Discussion This case suggests that MICPCH with a CASK mutation might cause developmental regression after adolescence and might be regarded as a neurodegenerative disorder.

Published
2021
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5. Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal

Author

Khadar, Abdi, Ramy, Abramsky, Nickie, Andescavage, Jephté, Bambi, Sudeepta, Basu, Cynthia, Bearer, Eric J, Benner, Thérèse, Biselele, Nikolay, Bliznyuk, Jeroen, Breckpot, Galen, Carey, Agnes, Chao, Line Iadsatian, Christiansen, Silvia, Comani, Pierpaolo, Croce, Maarten, De Vos, Anneleen, Dereymaeker, Laura, Dubois, Amelia J, Eisch, Adrian, Epstein, Neta, Geva, Yael, Geva, Marc, Gewillig, Sheyenne, Gillis, Ronald N, Goldberg, Magnus, Gram, Simon, Gregory, Danielle, Guez-Barber, Masahiro, Hayakawa, Nicole Lind, Henriksen, Tim, Hermans, Reli, Hershkovitz, Kristine, Holgersen, Bo, Holmqvist, Vaibhav, Jain, Katrien, Jansen, Vinay, Kandula, Kushal, Kapse, Masahiro, Kawaguchi, Abdulhafeez, Khair, Mohammad, Khazaei, Hiroyuki, Kidokoro, Frederico C, Kiffer, Katherine, Kisilewicz, Sumire, Kumai, Helene, Lacaille, David, Ley, Catherine, Limperopoulos, Sandy Ebba Hallengreen, Lindholm, Prosper, Lukusa, Rebecca, Lundberg, Peter, MacFarlane, Pavle, Matak, Laetitia, Mavinga, Catherine, Mayer, Gloire, Mbayabo, Takamasa, Mitsumatsu, Gerrye, Mubungu, Jonathan, Murnick, Tomohiko, Nakata, Hajime, Narita, Parvathi, Nataraj, Jun, Natsume, Gunnar, Naulaers, Rahul, Nikam, Niklas, Ortenlöf, Katherine, Ottolini, Xiaoyu, Pan, Stanislava, Pankratova, Kelly, Pegram, Anna A, Penn, Subechhya, Pradhan, Khadijeh, Raeisi, Nicholas, Rickman, Blaire, Rikard, Reut, Rotem, Per Torp, Sangild, Yoshiaki, Sato, Fumi, Sawamura, Eilon, Shany, Ilan, Shelef, Anna, Shiraki, Laura, Smets, Livia, Sura, Ryosuke, Suzui, Takeshi, Suzuki, Bruno-Paul, Tady, Gentaro, Taga, Gabriella, Tamburro, Liesbeth, Thewissen, J Will, Thompson, Thomas, Thymann, Cansu, Tokat, Claire-Marie, Vacher, Cyndi, Valdes, Suvi, Vallius, Sergei, Vatolin, Hama, Watanabe, Adi Yehuda, Weintraub, Michael, Weiss, Hiroyuki, Yamamoto, Salem Shimrit, Yaniv, Noelle, Younge, Sanghee, Yun, and Filippo, Zappasodi

Subjects
Fetus, Pregnancy, Infant, Newborn, Brain, Humans, Female, Prenatal Care, Head
Abstract

ispartof: J Neonatal Perinatal Med vol:15 issue:2 pages:411-426 ispartof: location:Netherlands status: published

Published
2022

6. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Author

Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, and Yoshiyuki Takahashi

Subjects
Multidisciplinary, Rare Diseases, DNA Copy Number Variations, Homozygote, Exome Sequencing, Humans, Exome, Uniparental Disomy, Dual Oxidases, Undiagnosed Diseases
Abstract

Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TOKAI-IRUD). This study included only patients who had not previously received genome-wide testing. Review meetings with specialists in various medical fields were held to evaluate the genetic diagnosis in each case, which was based on the guidelines of the American College of Medical Genetics and Genomics. WES identified diagnostic single-nucleotide variants in 66 patients and copy number variants (CNVs) in 11 patients. Additionally, a patient was diagnosed with Angelman syndrome with a complex clinical phenotype upon detection of a paternally derived uniparental disomy (UPD) [upd(15)pat] wherein the patient carried a homozygous DUOX2 p.E520D variant in the UPD region. Functional analysis confirmed that this DUOX2 variant was a loss-of-function missense substitution and the primary cause of congenital hypothyroidism. A significantly higher proportion of genetic diagnoses was achieved compared to previous reports (44%, 78/177 vs. 24–35%, respectively), probably due to detailed discussions and the higher rate of CNV detection.

Published
2021

7. Risks of ACTH therapy for West syndrome following BCG vaccination

Author

Jun Natsume, Masaharu Tanaka, Takeshi Suzuki, Koichi Maruyama, Tomohiko Nakata, Masahiro Kawaguchi, Yutaka Negishi, Tetsuo Kubota, Fumi Sawamura, Tomoya Takeuchi, Hiroyuki Kidokoro, Ikumi Hori, Hiroyuki Yamamoto, Yuki Maki, and Anna Shiraki

Subjects
endocrine system, Pediatrics, medicine.medical_specialty, Tuberculosis, medicine.medical_treatment, Adrenocorticotropic hormone, complex mixtures, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Adrenocorticotropic Hormone, Japan, medicine, Humans, 030212 general & internal medicine, Adverse effect, Retrospective Studies, Attenuated vaccine, business.industry, Vaccination, Infant, Immunosuppression, medicine.disease, Neurology, Etiology, BCG Vaccine, Neurology (clinical), business, Spasms, Infantile, hormones, hormone substitutes, and hormone antagonists, 030217 neurology & neurosurgery
Abstract

Bacille de Calmette et Guérin (BCG) is a live vaccine for tuberculosis that is administered to all infants in Japan. Adrenocorticotropic hormone (ACTH) therapy for West syndrome (WS) causes immunosuppression and may result in BCG infection after BCG vaccination. We evaluated the safety of ACTH therapy initiated shortly after BCG vaccination.We analyzed patients with WS who received ACTH therapy between 2005 and 2018. We evaluated the interval between BCG and ACTH therapy, and the rate of BCG infection during and after ACTH therapy, by retrospective chart review.Seventy-nine patients were included in the analysis. Twenty-three patients received ACTH therapy prior to BCG vaccination. For the remaining 56 patients, the median interval between BCG vaccination and the start of ACTH therapy (BCG-ACTH interval) was 91.5 (range 14-280) days. The BCG-ACTH interval was shorter in patients with unknown than in those with known etiologies. It was8 weeks in 13 patients (10 with unknown and 3 with known etiologies). The minimum BCG-ACTH interval was 14 days. Six patients with epileptic spasms received BCG vaccinations because physicians did not recognize their seizures. None of the patients developed BCG infection.No patients who received ACTH therapy after BCG, even at an interval of 8 weeks, developed BCG infection. The timing of ACTH therapy initiation should be based on the risk of BCG-related adverse events and the adverse effects of any delay.

Published
2021

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