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  • Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Authors

  • Mari Minatogawa Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan PubMed articlesGoogle scholar articles
  • Ai Unzaki Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan PubMed articlesGoogle scholar articles
  • Hiroko Morisaki Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan PubMed articlesGoogle scholar articles
  • Delfien Syx Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium Department of Biomolecular Medicine, Ghent University, Ghent, Belgium PubMed articlesGoogle scholar articles
  • Tohru Sonoda Department of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan PubMed articlesGoogle scholar articles
  • Andreas R Janecke Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria PubMed articlesGoogle scholar articles
  • Anne Slavotinek Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA PubMed articlesGoogle scholar articles
  • Nicol C Voermans Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Yves Lacassie Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA Division of Clinical Genetics and Department of Genetics, Children’s Hospital of New Orleans, New Orleans, LA, USA PubMed articlesGoogle scholar articles
  • Roberto Mendoza-Londono Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Klaas J Wierenga Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA PubMed articlesGoogle scholar articles
  • Parul Jayakar Division of Genetics and Metabolism, Nicklaus Children’s Hospital, Miami, FL, USA PubMed articlesGoogle scholar articles
  • William A Gahl Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA PubMed articlesGoogle scholar articles
  • Cynthia J Tifft Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA PubMed articlesGoogle scholar articles
  • Luis E Figuera División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico PubMed articlesGoogle scholar articles
  • Yvonne Hilhorst-Hofstee Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Alessandra Maugeri Department of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Ken Ishikawa Department of Pediatrics, Iwate Medical University, Morioka, Japan PubMed articlesGoogle scholar articles
  • Tomoko Kobayashi Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan Graduate School of Medicine, Tohoku University, Senda, Japan PubMed articlesGoogle scholar articles
  • Yoko Aoki Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan PubMed articlesGoogle scholar articles
  • Toshihiro Ohura Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan PubMed articlesGoogle scholar articles
  • Hiroshi Kawame Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan Miyagi Children’s Hospital, Sendai, Japan Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Michihiro Kono Department of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine School of Medicine, Akita, Akita, Japan PubMed articlesGoogle scholar articles
  • Kosuke Mochida Department of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan PubMed articlesGoogle scholar articles
  • Chiho Tokorodani Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan PubMed articlesGoogle scholar articles
  • Kiyoshi Kikkawa Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan PubMed articlesGoogle scholar articles
  • Takayuki Morisaki Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan Department of Internal Medicine, IMSUT Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Tetsuyuki Kobayashi Department of Internal Medicine, Nagano Chuo Hospital, Nagano, Japan PubMed articlesGoogle scholar articles
  • Takaya Nakane Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan PubMed articlesGoogle scholar articles
  • Akiharu Kubo Department of Dermatology, Keio University School of Medicine, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Judith D Ranells Department of Pediatrics, University of South Florida, College of Medicine, Tampa, FL, USA PubMed articlesGoogle scholar articles
  • Ohsuke Migita Department of Clinical Genetics, St. Marianna University, School of Medicine, Kawasaki, Japan PubMed articlesGoogle scholar articles
  • Glenda Sobey EDS National Diagnostic Service, Sheffield Children’s Hospital, Sheffield, UK PubMed articlesGoogle scholar articles
  • Anupriya Kaur Department of Pediatrics (Genetics Division), Advanced Pediatric Cente, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India PubMed articlesGoogle scholar articles
  • Masumi Ishikawa Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan PubMed articlesGoogle scholar articles
  • Tomomi Yamaguchi Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan PubMed articlesGoogle scholar articles
  • Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan PubMed articlesGoogle scholar articles
  • Fransiska Malfait Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium Department of Biomolecular Medicine, Ghent University, Ghent, Belgium PubMed articlesGoogle scholar articles
  • Noriko Miyake Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan PubMed articlesGoogle scholar articles
  • Tomoki Kosho Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Tomoki Kosho, Department of Medical Genetics, Shinshu University Graduate School of Medicine School of Medicine, Matsumoto 390-8621, Japan; ktomoki{at}shinshu-u.ac.jp
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Citation

Minatogawa M, Unzaki A, Morisaki H, et al
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Journal of Medical Genetics 2022;59:865-877.

Publication history

  • Received November 29, 2020
  • Accepted September 25, 2021
  • First published November 23, 2021.
Online issue publication 
November 15, 2022

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.