A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin; Giulia Del Gobbo; Madeline Couse; Egor Dolzhenko; Marie-Josée Dicaire; Adriana Rebelo; Virginie Roth; Marion Wandzel; Céline Bonnet; Catherine Ashton; Phillipa J. Lamont; Nigel G. Laing; Mathilde Renaud; Gianina Ravenscroft; Henry Houlden; Matthis Synofzik; Michael A. Eberle; Kym M. Boycott; Tomi Pastinen; Bernard Brais; Stephan Zuchner; Matt C. Danzi

doi:10.1101/2023.05.11.540430

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A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Gianina Ravenscroft, View ORCID ProfileHenry Houlden, View ORCID ProfileMatthis Synofzik, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Bernard Brais, Stephan Zuchner, Matt C. Danzi

doi: https://doi.org/10.1101/2023.05.11.540430

David Pellerin

1Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada

2Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom

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Giulia Del Gobbo

3Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

PhD

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Madeline Couse

4Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

MSc

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Egor Dolzhenko

5Pacific Biosciences, Menlo Park, CA, USA

PhD

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Marie-Josée Dicaire

1Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada

BSc

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Adriana Rebelo

6Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA

PhD

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Virginie Roth

7Laboratoire de Génétique, CHRU de Nancy, France

PhD

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Marion Wandzel

7Laboratoire de Génétique, CHRU de Nancy, France

PharmD

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Céline Bonnet

7Laboratoire de Génétique, CHRU de Nancy, France

8INSERM-U1256 NGERE, Université de Lorraine, Nancy, France

MD, PhD

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Catherine Ashton

1Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada

MBBS

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Phillipa J. Lamont

9Department of Neurology, Royal Perth Hospital, Perth, WA, Australia

MBBS, PhD

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Nigel G. Laing

10Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia

PhD

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Mathilde Renaud

8INSERM-U1256 NGERE, Université de Lorraine, Nancy, France

11Service de Neurologie, CHRU de Nancy, France

12Service de Génétique Clinique, CHRU de Nancy, France

MD, PhD

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Gianina Ravenscroft

10Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia

PhD

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Henry Houlden

2Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom

MD, PhD

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ORCID record for Henry Houlden

Matthis Synofzik

13Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany

14German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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ORCID record for Matthis Synofzik

Michael A. Eberle

5Pacific Biosciences, Menlo Park, CA, USA

PhD

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Kym M. Boycott

3Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

MD, PhD

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Tomi Pastinen

15Genomic Medicine Center, Children’s Mercy Kansas City, Kansas City, MO, USA

16UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA

MD, PhD

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Bernard Brais

1Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada

17Department of Human Genetics, McGill University, Montreal, QC, Canada

MDCM, PhD

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Stephan Zuchner

6Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA

MD, PhD

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Matt C. Danzi

6Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA

PhD

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For correspondence: m.danzi@med.miami.edu

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A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Gianina Ravenscroft, Henry Houlden, Matthis Synofzik, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Bernard Brais, Stephan Zuchner, Matt C. Danzi

bioRxiv 2023.05.11.540430; doi: https://doi.org/10.1101/2023.05.11.540430

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A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Gianina Ravenscroft, Henry Houlden, Matthis Synofzik, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Bernard Brais, Stephan Zuchner, Matt C. Danzi

bioRxiv 2023.05.11.540430; doi: https://doi.org/10.1101/2023.05.11.540430

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