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Neurogenetics
Original research
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Authors

  • Ethiraj Ravindran Institute of Cell Biology and Neurobiology, Charité Universitätsmedizin Berlin, Berlin, Germany Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Cynthia Gutierrez de Velazco Institute of Cell Biology and Neurobiology, Charité Universitätsmedizin Berlin, Berlin, Germany Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Ali Ghazanfar Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan PubMed articlesGoogle scholar articles
  • Nadine Kraemer Institute of Cell Biology and Neurobiology, Charité Universitätsmedizin Berlin, Berlin, Germany Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Sami Zaqout Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University, Doha, Qatar Biomedical and Pharmaceutical Research Unit, QU Health, Qatar University, Doha, Qatar PubMed articlesGoogle scholar articles
  • Abdul Waheed Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan PubMed articlesGoogle scholar articles
  • Mohsan Hanif Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan PubMed articlesGoogle scholar articles
  • Sadia Mughal Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan PubMed articlesGoogle scholar articles
  • Alessandro Prigione University Children’s Hospital, Department of General Pediatrics, Heinrich-Heine-Universitat Dusseldorf, Düsseldorf, Germany PubMed articlesGoogle scholar articles
  • Na Li Laboratory of Medical Systems Biology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China PubMed articlesGoogle scholar articles
  • Xiang Fang Laboratory of Medical Systems Biology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China PubMed articlesGoogle scholar articles
  • Hao Hu Laboratory of Medical Systems Biology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China School of Medicine, South China University of Technology, Guangzhou, China PubMed articlesGoogle scholar articles
  • Angela M Kaindl Institute of Cell Biology and Neurobiology, Charité Universitätsmedizin Berlin, Berlin, Germany Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Angela M Kaindl, Institute of Cell Biology and Neurobiology, Department of Pediatric Neurology, Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité Universitätsmedizin Berlin, Berlin, Germany; angela.kaindl{at}charite.de
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Citation

Ravindran E, Gutierrez de Velazco C, Ghazanfar A, et al
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
Journal of Medical Genetics 2022;59:453-461.

Publication history

  • Received October 27, 2020
  • Revised February 15, 2021
  • Accepted March 2, 2021
  • First published May 31, 2021.
Online issue publication 
April 22, 2022

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    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

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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/.