Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Kazuhiro Iwama; Takeshi Mizuguchi; Eri Takeshita; Eiji Nakagawa; Tetsuya Okazaki; Yoshiko Nomura; Yoshitaka Iijima; Ichiro Kajiura; Kenji Sugai; Takashi Saito; Masayuki Sasaki; Kotaro Yuge; Tomoko Saikusa; Nobuhiko Okamoto; Satoru Takahashi; Masano Amamoto; Ichiro Tomita; Satoko Kumada; Yuki Anzai; Kyoko Hoshino; Aviva Fattal-Valevski; Naohide Shiroma; Masaharu Ohfu; Masaharu Moroto; Koichi Tanda; Tomoko Nakagawa; Takafumi Sakakibara; Shin Nabatame; Muneaki Matsuo; Akiko Yamamoto; Shoko Yukishita; Ken Inoue; Chikako Waga; Yoko Nakamura; Shoko Watanabe; Chihiro Ohba; Toru Sengoku; Atsushi Fujita; Satomi Mitsuhashi; Satoko Miyatake; Atsushi Takata; Noriko Miyake; Kazuhiro Ogata; Shuichi Ito; Hirotomo Saitsu; Toyojiro Matsuishi; Yu-ichi Goto; Naomichi Matsumoto

doi:10.1136/jmedgenet-2018-105775

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Diagnostics

Original article

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Authors

Kazuhiro Iwama Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Takeshi Mizuguchi Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Eri Takeshita Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Eiji Nakagawa Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Tetsuya Okazaki Department of Pediatrics, Nippon Medical School Tama-Nagayama Hospital, Tokyo, Japan PubMed articles Google scholar articles
Yoshiko Nomura Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan PubMed articles Google scholar articles
Yoshitaka Iijima Division of Pediatrics, Osaka Developmental Rehabilitation Center, Osaka, Japan PubMed articles Google scholar articles
Ichiro Kajiura Division of Pediatrics, Osaka Developmental Rehabilitation Center, Osaka, Japan PubMed articles Google scholar articles
Kenji Sugai Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Takashi Saito Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Masayuki Sasaki Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Kotaro Yuge Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan PubMed articles Google scholar articles
Tomoko Saikusa Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan PubMed articles Google scholar articles
Nobuhiko Okamoto Deparment of Medical Genetics, Osaka Women’s and Children’s Hospital, Osaka, Japan PubMed articles Google scholar articles
Satoru Takahashi Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan PubMed articles Google scholar articles
Masano Amamoto Department of Pediatrics, Kitakyushu Municipal Yahata Hospital, Fukuoka, Japan PubMed articles Google scholar articles
Ichiro Tomita Department of Pediatrics, Kitakyushu Municipal Yahata Hospital, Fukuoka, Japan PubMed articles Google scholar articles
Satoko Kumada Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan PubMed articles Google scholar articles
Yuki Anzai Segawa Memorial Neurological Clinic for Children, Tokyo, Japan PubMed articles Google scholar articles
Kyoko Hoshino Segawa Memorial Neurological Clinic for Children, Tokyo, Japan PubMed articles Google scholar articles
Aviva Fattal-Valevski Pediatric Neurology Unit, Dana-Dwek Children’s Hospital, Tel Aviv Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel PubMed articles Google scholar articles
Naohide Shiroma Neurodevelopment Clinic Prop, Okinawa, Japan PubMed articles Google scholar articles
Masaharu Ohfu Division of Child Neurology, Okinawa Prefectural Nanbu Medical Center and Children’s Medical Center, Okinawa, Japan PubMed articles Google scholar articles
Masaharu Moroto Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan Kyoto Prefectural Chutan-Nishi Public Health Center, Kyoto, Japan PubMed articles Google scholar articles
Koichi Tanda Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan PubMed articles Google scholar articles
Tomoko Nakagawa Department of Pediatrics, Nara Medical University, Nara, Japan PubMed articles Google scholar articles
Takafumi Sakakibara Department of Pediatrics, Nara Medical University, Nara, Japan PubMed articles Google scholar articles
Shin Nabatame Department of Pediatrics, Graduate School of Medicine, Osaka University, Osaka, Japan PubMed articles Google scholar articles
Muneaki Matsuo Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan PubMed articles Google scholar articles
Akiko Yamamoto Division of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental and Multiple Disabilities, Tokyo, Japan PubMed articles Google scholar articles
Shoko Yukishita Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan PubMed articles Google scholar articles
Ken Inoue Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Chikako Waga Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Yoko Nakamura Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Shoko Watanabe Department of Genome Medicine Development, Medical Genome Center (MGC), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Chihiro Ohba Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Toru Sengoku Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Atsushi Fujita Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Satomi Mitsuhashi Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Satoko Miyatake Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan PubMed articles Google scholar articles
Atsushi Takata Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Noriko Miyake Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Kazuhiro Ogata Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Shuichi Ito Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan PubMed articles Google scholar articles
Hirotomo Saitsu Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan PubMed articles Google scholar articles
Toyojiro Matsuishi Research Center for Children and Research Center for Rett Syndrome, St. Mary’s Hospital, Fukuoka, Japan PubMed articles Google scholar articles
Yu-ichi Goto Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan Department of Genome Medicine Development, Medical Genome Center (MGC), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan PubMed articles Google scholar articles
Naomichi Matsumoto Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles

Correspondence to Professor Naomichi Matsumoto, Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan; naomat{at}yokohama-cu.ac.jp

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Citation

Iwama K, Mizuguchi T, Takeshita E, et al

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Journal of Medical Genetics 2019;56:396-407.

Publication history

Received October 2, 2018
Revised January 17, 2019
Accepted January 21, 2019
First published March 6, 2019.

Online issue publication

May 28, 2019

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