Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

Lettie E. Rawlins; Hashem Almousa; Shazia Khan; Stephan C. Collins; Miroslav P. Milev; Joseph Leslie; Djenann Saint-Dic; Valeed Khan; Ana Maria Hincapie; Jacob O. Day; Lucy McGavin; Christine Rowley; Gaurav V. Harlalka; Valerie E. Vancollie; Wasim Ahmad; Christopher J. Lelliott; Asma Gul; Binnaz Yalcin; Andrew H. Crosby; Michael Sacher; Emma L. Baple

doi:10.1371/journal.pgen.1010114

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Peer-reviewed

Research Article

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

Lettie E. Rawlins ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Data curation, Formal analysis, Funding acquisition, Investigation, Visualization, Writing – original draft, Writing – review & editing

Affiliations RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom, Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom

https://orcid.org/0000-0002-6764-253X

⨯
Hashem Almousa ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Data curation, Formal analysis, Investigation, Visualization, Writing – original draft, Writing – review & editing

Affiliation Department of Biology, Concordia University, Montreal, Quebec, Canada

https://orcid.org/0000-0003-2679-5350

⨯
Shazia Khan ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Data curation, Formal analysis, Investigation, Visualization

Affiliations RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom, Department of Biological Sciences, International Islamic University, Islamabad, Pakistan
⨯
Stephan C. Collins ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Data curation, Formal analysis, Investigation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France, Inserm, University of Bourgogne Franche-Comté, Dijon, France

https://orcid.org/0000-0002-1533-3380

⨯
Miroslav P. Milev,

Roles Investigation, Methodology

Affiliation Department of Biology, Concordia University, Montreal, Quebec, Canada
⨯
Joseph Leslie,

Roles Investigation

Affiliation RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom

https://orcid.org/0000-0003-0972-8818

⨯
Djenann Saint-Dic,

Roles Investigation

Affiliation Department of Biology, Concordia University, Montreal, Quebec, Canada

https://orcid.org/0000-0001-9328-7108

⨯
Valeed Khan,

Roles Investigation

Affiliation Department of Molecular Diagnostics, Rehman Medical Institute, Peshawar, Pakistan

https://orcid.org/0000-0002-3840-5439

⨯
Ana Maria Hincapie,

Roles Investigation

Affiliation Department of Biology, Concordia University, Montreal, Quebec, Canada
⨯
Jacob O. Day,

Roles Investigation

Affiliations RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom, Faculty of Health, University of Plymouth, Plymouth, United Kingdom

https://orcid.org/0000-0002-6020-510X

⨯
Lucy McGavin,

Roles Investigation

Affiliation University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom
⨯
Christine Rowley,

Roles Investigation

Affiliation Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom
⨯
Gaurav V. Harlalka,

Roles Investigation

Affiliations RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom, Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, India

https://orcid.org/0000-0001-8968-2447

⨯
Valerie E. Vancollie,

Roles Investigation

Affiliation Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom

https://orcid.org/0000-0003-1547-1975

⨯
Wasim Ahmad,

Roles Investigation

Affiliation Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
⨯
Christopher J. Lelliott,

Roles Investigation

Affiliation Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom

https://orcid.org/0000-0001-8087-4530

⨯
Asma Gul,

Roles Investigation, Supervision

Affiliation Department of Biological Sciences, International Islamic University, Islamabad, Pakistan
⨯
Binnaz Yalcin ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Funding acquisition, Investigation, Methodology, Project administration, Supervision, Writing – original draft, Writing – review & editing

Affiliations Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France, Inserm, University of Bourgogne Franche-Comté, Dijon, France

https://orcid.org/0000-0002-1924-6807

⨯
Andrew H. Crosby ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

Affiliation RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom

https://orcid.org/0000-0003-3667-9054

⨯
Michael Sacher ,

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

Affiliations Department of Biology, Concordia University, Montreal, Quebec, Canada, Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada

https://orcid.org/0000-0003-2926-5064

⨯
[ ... ],
Emma L. Baple

Contributed equally to this work with: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

* E-mail: E.Baple@exeter.ac.uk

Affiliations RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom, Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom

https://orcid.org/0000-0002-6637-3411

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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

Lettie E. Rawlins,
Hashem Almousa,
Shazia Khan,
Stephan C. Collins,
Miroslav P. Milev,
Joseph Leslie,
Djenann Saint-Dic,
Valeed Khan,
Ana Maria Hincapie,
Jacob O. Day

Published: March 17, 2022
https://doi.org/10.1371/journal.pgen.1010114

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