Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Lucia Laugwitz; Annette Seibt; Diran Herebian; Susana Peralta; Imke Kienzle; Rebecca Buchert; Ruth Falb; Darja Gauck; Amelie Müller; Mona Grimmel; Stefanie Beck-Woedel; Jan Kern; Karim Daliri; Pegah Katibeh; Katharina Danhauser; Steffen Leiz; Viola Alesi; Fabian Baertling; Gessica Vasco; Robert Steinfeld; Matias Wagner; Ahmet Okay Caglayan; Hakan Gumus; Margit Burmeister; Ertan Mayatepek; Diego Martinelli; Parag Mohan Tamhankar; Vasundhara Tamhankar; Pascal Joset; Katharina Steindl; Anita Rauch; Penelope E Bonnen; Tawfiq Froukh; Samuel Groeschel; Ingeborg Krägeloh-Mann; Tobias B Haack; Felix Distelmaier

doi:10.1136/jmedgenet-2021-107729

Article info

Neurogenetics

Original research

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Authors

Lucia Laugwitz Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Annette Seibt Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany PubMed articles Google scholar articles
Diran Herebian Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany PubMed articles Google scholar articles
Susana Peralta Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Imke Kienzle Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Rebecca Buchert Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Ruth Falb Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Darja Gauck Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Amelie Müller Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Mona Grimmel Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Stefanie Beck-Woedel Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Jan Kern Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Karim Daliri Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran Institute for Neurophysiology, University of Cologne, Medical Faculty, Cologne, Germany PubMed articles Google scholar articles
Pegah Katibeh Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran PubMed articles Google scholar articles
Katharina Danhauser Institute of Human Genetics, Technische Universität München, Munich, Germany Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany PubMed articles Google scholar articles
Steffen Leiz Pediatric Neurology, Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany PubMed articles Google scholar articles
Viola Alesi Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy PubMed articles Google scholar articles
Fabian Baertling Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany PubMed articles Google scholar articles
Gessica Vasco Department of Neuroscience and Neurorehabilitation, Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy PubMed articles Google scholar articles
Robert Steinfeld University Children’s Hospital Zurich, Zurich, Switzerland PubMed articles Google scholar articles
Matias Wagner Institute of Human Genetics, Technische Universität München, Munich, Germany Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany PubMed articles Google scholar articles
Ahmet Okay Caglayan Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey PubMed articles Google scholar articles
Hakan Gumus Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey PubMed articles Google scholar articles
Margit Burmeister Michigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Ertan Mayatepek Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany PubMed articles Google scholar articles
Diego Martinelli Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy PubMed articles Google scholar articles
Parag Mohan Tamhankar Centre for Medical Genetics, Mulund, Mumbai, India PubMed articles Google scholar articles
Vasundhara Tamhankar Centre for Medical Genetics, Mulund, Mumbai, India PubMed articles Google scholar articles
Pascal Joset Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, 4056 Basel, Switzerland PubMed articles Google scholar articles
Katharina Steindl Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articles Google scholar articles
Anita Rauch Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articles Google scholar articles
Penelope E Bonnen Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Tawfiq Froukh Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan PubMed articles Google scholar articles
Samuel Groeschel Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Ingeborg Krägeloh-Mann Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Tobias B Haack Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Center for Rare Disease, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Felix Distelmaier Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany PubMed articles Google scholar articles

Correspondence to Dr Felix Distelmaier, Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-Universitat Düsseldorf, Düsseldorf, Nordrhein-Westfalen, Germany; Felix.Distelmaier{at}med.uni-duesseldorf.de

View Full Text

Citation

Laugwitz L, Seibt A, Herebian D, et al

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Journal of Medical Genetics 2022;59:878-887.

Publication history

Received January 22, 2021
Accepted September 26, 2021
First published October 16, 2021.

Online issue publication

November 15, 2022

Article Versions

Previous version (15 November 2022).
Previous version (15 November 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