Prenatal clinical manifestations in individuals with COL4A1/2 variants

Toshiyuki Itai; Satoko Miyatake; Masataka Taguri; Fumihito Nozaki; Masayasu Ohta; Hitoshi Osaka; Masafumi Morimoto; Tomoko Tandou; Fumikatsu Nohara; Yuichi Takami; Fumitaka Yoshioka; Shoko Shimokawa; Jiu Okuno-Yuguchi; Mitsuo Motobayashi; Yuko Takei; Tetsuhiro Fukuyama; Satoko Kumada; Yohane Miyata; Chikako Ogawa; Yuki Maki; Noriko Togashi; Teruyuki Ishikura; Makoto Kinoshita; Yusuke Mitani; Yonehiro Kanemura; Tsuyoshi Omi; Naoki Ando; Ayako Hattori; Shinji Saitoh; Yukihiro Kitai; Satori Hirai; Hiroshi Arai; Fumihiko Ishida; Hidetoshi Taniguchi; Yasuji Kitabatake; Keiichi Ozono; Shin Nabatame; Robert Smigiel; Mitsuhiro Kato; Koichi Tanda; Yoshihiko Saito; Akihiko Ishiyama; Yushi Noguchi; Mazumi Miura; Takaaki Nakano; Keiko Hirano; Ryoko Honda; Ichiro Kuki; Jun-ichi Takanashi; Akihito Takeuchi; Tatsuya Fukasawa; Chizuru Seiwa; Atsuko Harada; Yusuke Yachi; Hiroyuki Higashiyama; Hiroshi Terashima; Tadayuki Kumagai; Satoshi Hada; Yoshiichi Abe; Etsuko Miyagi; Yuri Uchiyama; Atsushi Fujita; Eri Imagawa; Yoshiteru Azuma; Kohei Hamanaka; Eriko Koshimizu; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Hiroshi Doi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto

doi:10.1136/jmedgenet-2020-106896

Article info

Neurogenetics

Original research

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Authors

Toshiyuki Itai Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Satoko Miyatake Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Masataka Taguri Department of Data Science, Yokohama City University School of Data Science, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Fumihito Nozaki Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan PubMed articles Google scholar articles
Masayasu Ohta Department of Pediatrics, JA Toride General Medical Center, Toride, Ibaraki, Japan PubMed articles Google scholar articles
Hitoshi Osaka Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan PubMed articles Google scholar articles
Masafumi Morimoto Division of Pediatrics, Department of Medical Science, School of Nursing, Kyoto Prefectural University of Medicine, Kamigyo-ku, Kyoto, Japan PubMed articles Google scholar articles
Tomoko Tandou Department of Pediatrics, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan PubMed articles Google scholar articles
Fumikatsu Nohara Department of Pediatrics, Asahikawa Medical University, Asahikawa, Hokkaido, Japan PubMed articles Google scholar articles
Yuichi Takami Department of Pediatrics, Japanese Red Cross Society Himeji Hospital, Himeji, Hyogo, Japan PubMed articles Google scholar articles
Fumitaka Yoshioka Department of Neurosurgery, Saga University, Saga, Saga, Japan PubMed articles Google scholar articles
Shoko Shimokawa Department of Neurosurgery, Saga University, Saga, Saga, Japan PubMed articles Google scholar articles
Jiu Okuno-Yuguchi Division of Neurology, Nagano Children's Hospital, Azumino, Nagano, Japan PubMed articles Google scholar articles
Mitsuo Motobayashi Division of Neurology, Nagano Children's Hospital, Azumino, Nagano, Japan PubMed articles Google scholar articles
Yuko Takei Division of Neurology, Nagano Children's Hospital, Azumino, Nagano, Japan PubMed articles Google scholar articles
Tetsuhiro Fukuyama Division of Neurology, Nagano Children's Hospital, Azumino, Nagano, Japan PubMed articles Google scholar articles
Satoko Kumada Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan PubMed articles Google scholar articles
Yohane Miyata Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan PubMed articles Google scholar articles
Chikako Ogawa Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Yuki Maki Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Noriko Togashi Department of Neurology, Miyagi Children's Hospital, Sendai, Miyagi, Japan PubMed articles Google scholar articles
Teruyuki Ishikura Department of Neurology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Makoto Kinoshita Department of Neurology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Yusuke Mitani Department of Pediatrics, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan PubMed articles Google scholar articles
Yonehiro Kanemura Department of Biomedical Research and Innovation, Institute for Clinical Research and Department of Neurosurgery, National Hospital Organization Osaka National Hospital, Osaka, Osaka, Japan PubMed articles Google scholar articles
Tsuyoshi Omi Department of Pediatrics, Okinawa Nanbu Medical Treatment and Education Center, Naha, Okinawa, Japan PubMed articles Google scholar articles
Naoki Ando Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Ayako Hattori Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Shinji Saitoh Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Aichi, Japan PubMed articles Google scholar articles
Yukihiro Kitai Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka, Osaka, Japan PubMed articles Google scholar articles
Satori Hirai Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka, Osaka, Japan PubMed articles Google scholar articles
Hiroshi Arai Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka, Osaka, Japan PubMed articles Google scholar articles
Fumihiko Ishida Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Hidetoshi Taniguchi Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Yasuji Kitabatake Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Keiichi Ozono Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Shin Nabatame Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan PubMed articles Google scholar articles
Robert Smigiel Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland PubMed articles Google scholar articles
Mitsuhiro Kato Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo, Japan PubMed articles Google scholar articles
Koichi Tanda Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Kyoto, Japan PubMed articles Google scholar articles
Yoshihiko Saito Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan PubMed articles Google scholar articles
Akihiko Ishiyama Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan PubMed articles Google scholar articles
Yushi Noguchi Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Tottori, Japan PubMed articles Google scholar articles
Mazumi Miura Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Tottori, Japan PubMed articles Google scholar articles
Takaaki Nakano Department of Neurosurgery, Akiyama Neurosurgical Hospital, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Keiko Hirano Department of Pediatrics, Iwata City Hospital, Iwata, Shizuoka, Japan PubMed articles Google scholar articles
Ryoko Honda Department of Pediatrics, National Hospital Organisation Nagasaki Medical Center, Omura, Nagasaki, Japan PubMed articles Google scholar articles
Ichiro Kuki Department of Child Neurology, Osaka City General Hospital, Osaka, Osaka, Japan PubMed articles Google scholar articles
Jun-ichi Takanashi Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Chiba, Japan PubMed articles Google scholar articles
Akihito Takeuchi Division of Neonatology and Neuropediatrics, National Hospital Organization Okayama Medical Center, Okayama, Okayama, Japan PubMed articles Google scholar articles
Tatsuya Fukasawa Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi, Japan PubMed articles Google scholar articles
Chizuru Seiwa Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, Kaminoyama, Yamagata, Japan PubMed articles Google scholar articles
Atsuko Harada Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki, Osaka, Japan PubMed articles Google scholar articles
Yusuke Yachi Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Toyama, Japan PubMed articles Google scholar articles
Hiroyuki Higashiyama Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Toyama, Japan PubMed articles Google scholar articles
Hiroshi Terashima Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan PubMed articles Google scholar articles
Tadayuki Kumagai Division of Neurology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan PubMed articles Google scholar articles
Satoshi Hada Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima, Hiroshima, Japan PubMed articles Google scholar articles
Yoshiichi Abe Department of Pediatrics, Oita University Faculty Of Medicine, Yufu, Oita, Japan PubMed articles Google scholar articles
Etsuko Miyagi Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Yuri Uchiyama Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Atsushi Fujita Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Eri Imagawa Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Yoshiteru Azuma Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Kohei Hamanaka Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Eriko Koshimizu Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Satomi Mitsuhashi Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Takeshi Mizuguchi Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Atsushi Takata Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Noriko Miyake Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Yoshinori Tsurusaki Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan PubMed articles Google scholar articles
Hiroshi Doi Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles
Mitsuko Nakashima Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan PubMed articles Google scholar articles
Hirotomo Saitsu Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan PubMed articles Google scholar articles
Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan PubMed articles Google scholar articles

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

View Full Text

Citation

Itai T, Miyatake S, Taguri M, et al

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Journal of Medical Genetics 2021;58:505-513.

Publication history

Received February 3, 2020
Revised May 13, 2020
Accepted June 8, 2020
First published July 30, 2020.

Online issue publication

January 09, 2022

Article Versions

Previous version (8 January 2022).
You are viewing the most recent version of this article.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Main menu

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password