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  • MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

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Original article
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Authors

  • Abolfazl Rad Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran PubMed articlesGoogle scholar articles
  • Umut Altunoglu Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Rebecca Miller Inova Cardiovascular Genomics Clinic, Inova Translational Medicine Institute, Falls Church, Virginia, USA PubMed articlesGoogle scholar articles
  • Reza Maroofian Genetics and Molecular Cell Sciences Research Centre, St George’s, University of London, London, UK PubMed articlesGoogle scholar articles
  • Kiely N James Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children’s Institute for Genomic Medicine, University of California, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Ahmet Okay Çağlayan Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, Connecticut, USA Medical Genetics Department, Bilim University School of Medicine, İstanbul, Turkey PubMed articlesGoogle scholar articles
  • Maryam Najafi Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Valentina Stanley Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children’s Institute for Genomic Medicine, University of California, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Rose-Mary Boustany Department of Pediatrics and Adolescent Medicine, Neurogenetics Program and Division of Pediatric Neurology, American University of Beirut Medical Center Special Kids Clinic, Beirut, Lebanon Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon PubMed articlesGoogle scholar articles
  • Gözde Yeşil Medical Genetics Department, Bezmi Alem University School of Medicine, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Afsaneh Sahebzamani Paediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran PubMed articlesGoogle scholar articles
  • Gülhan Ercan-Sencicek Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, Connecticut, USA PubMed articlesGoogle scholar articles
  • Kolsoum Saeidi Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran Department of Medical Genetics, Kerman University of Medical Sciences, Kerman, Iran PubMed articlesGoogle scholar articles
  • Kaman Wu Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Peter Bauer Centogene AG, Rostock, Germany PubMed articlesGoogle scholar articles
  • Zeineb Bakey Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany PubMed articlesGoogle scholar articles
  • Joseph G Gleeson Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children’s Institute for Genomic Medicine, University of California, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Natalie Hauser Inova Cardiovascular Genomics Clinic, Inova Translational Medicine Institute, Falls Church, Virginia, USA PubMed articlesGoogle scholar articles
  • Murat Gunel Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, Connecticut, USA PubMed articlesGoogle scholar articles
  • Hulya Kayserili Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul, Turkey Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey PubMed articlesGoogle scholar articles
  • Miriam Schmidts Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Miriam Schmidts, Human Genetics Department, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands and Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Medical Faculty, 79112 Freiburg, Germany; Miriam.Schmidts{at}uniklinik-freiburg.de
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Citation

Rad A, Altunoglu U, Miller R, et al
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Journal of Medical Genetics 2019;56:332-339.

Publication history

  • Received July 19, 2018
  • Revised October 29, 2018
  • Accepted November 13, 2018
  • First published November 28, 2018.
Online issue publication 
April 25, 2019

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.