Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination-Reference-Cited by-同舟云学术

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Published:2019-09-09 Issue:10 Volume:142 Page:2948-2964
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Efthymiou Stephanie¹²,Salpietro Vincenzo¹²,Malintan Nancy²,Poncelet Mallory³,Kriouile Yamna⁴,Fortuna Sara⁵^ORCID,De Zorzi Rita⁵,Payne Katelyn⁶,Henderson Lindsay B⁷,Cortese Andrea¹,Maddirevula Sateesh⁸,Alhashmi Nadia⁹,Wiethoff Sarah¹¹⁰,Ryten Mina¹¹,Botia Juan A¹¹¹²,Provitera Vincenzo¹³,Schuelke Markus¹⁴,Vandrovcova Jana¹,Groppa Stanislav,Karashova Blagovesta Marinova,Nachbauer Wolfgang,Boesch Sylvia,Arning Larissa,Timmann Dagmar,Cormand Bru,Pérez-Dueñas Belen,Goraya Jatinder S,Sultan Tipu,Mine Jun,Avdjieva Daniela,Kathom Hadil,Tincheva Radka,Banu Selina,Pineda-Marfa Mercedes,Veggiotti Pierangelo,Ferrari Michel D,van den Maagdenberg Arn M J M,Verrotti Alberto,Marseglia Giangluigi,Savasta Salvatore,García-Silva Mayte,Ruiz Alfons Macaya,Garavaglia Barbara,Borgione Eugenia,Portaro Simona,Sanchez Benigno Monteagudo,Boles Richard,Papacostas Savvas,Vikelis Michail,Rothman James,Kullmann Dimitri,Papanicolaou Eleni Zamba,Dardiotis Efthymios,Maqbool Shazia,Ibrahim Shahnaz,Kirmani Salman,Rana Nuzhat Noureen,Atawneh Osama,Lim Shen-Yang,Shaikh Farooq,Koutsis George,Breza Marianthi,Mangano Salvatore,Scuderi Carmela,Borgione Eugenia,Morello Giovanna,Stojkovic Tanya,Zollo Massimo,Heimer Gali,Dauvilliers Yves A,Minetti Carlo,Al-Khawaja Issam,Al-Mutairi Fuad,Hamed Sherifa,Pipis Menelaos,Bettencourt Conceicao,Rinaldi Simon,Walsh Laurence⁶,Torti Erin⁷,Iodice Valeria¹⁵¹⁶,Najafi Maryam¹⁷,Karimiani Ehsan Ghayoor¹⁸,Maroofian Reza¹⁸,Siquier-Pernet Karine¹⁹²⁰,Boddaert Nathalie¹⁹²¹,De Lonlay Pascale¹⁹²²,Cantagrel Vincent¹⁹²⁰^ORCID,Aguennouz Mhammed²³^ORCID,El Khorassani Mohamed⁴,Schmidts Miriam¹⁷²⁴,Alkuraya Fowzan S²⁵,Edvardson Simon²⁶,Nolano Maria¹³²⁷,Devaux Jérôme³,Houlden Henry¹,

Affiliation:

1. Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK

2. Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK

3. INSERM U1051, Institut de Neurosciences de Montpellier (INM), Université de Montpellier, Montpellier, France

4. Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children’s Hospital, and Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Morocco

5. Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy

6. Riley Hospital for Children, Indianapolis, Indiana, IN, USA

7. GeneDx, Gaithersburg, MD, USA

8. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

9. Department of Genetics, College of Medicine, Sultan Qaboos University, Sultanate of Oman

10. Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany

11. Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, London, UK

12. Departamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, E, Spain

13. Department of Neurology, Istituti Clinici Scientifici Maugeri IRCCS, Italy

14. Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Germany

15. Department of Brain Repair and Rehabilitation, Institute of Neurology, University College London, UK

16. Autonomic Unit, National Hospital Neurology and Neurosurgery, UCL NHS Trust, London, UK

17. Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands

18. Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, Cranmer Terrace, London, UK

19. Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France

20. Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France

21. Department of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France

22. Inserm, U1151, Institut Necker-Enfants Malades, Paris, France

23. Department of Clinical and Experimental Medicine, University of Messina, Sicily

24. Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Mathildenstrasse 1, Freiburg, Germany

25. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

26. Paediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel

27. Department of Neurosciences, Reproductive and Odontostomatological Sciences, University “Federico II” of Naples, Italy

Abstract

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article.Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Funder

Wellcome Trust

National Institute for Health Research University

MDUK

Muscular Dystrophy Association

Radboudumc and RIMLS Nijmegen

Ministry of Science, Research and the Arts of Baden-Württemberg

European Social Fund

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)