Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Accepted/In Press date: 28 September 2022

e-pub ahead of print date: 18 November 2022

Published date: 1 January 2023

Additional Information: Funding Information: The authors thank all patients and families for participation in this study. Part of this research was possible thanks to the Deciphering Developmental Disorders study. The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of DECIPHER (http://www.deciphergenomics.org), which is funded by Wellcome. See www.ddduk.org/access.html for full acknowledgment. This study was also supported by the Wellcome Trust (WT093205MA and WT104033AIA to H.H. and 203141/Z/16/Z to M.P.F. and J.C.T.), Medical Research Council (H.H.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), the National Institute for Health Research (NIHR), University College London Hospitals, Biomedical Research Centre, and Fidelity Foundation. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. D.B. is supported by NIHR Research Professorship (RP-2016-07-011). F.L. and A.G. received funding from European Union and Région Normandie in the context of Recherche Innovation Normandie 2018. Europe gets involved in Normandie with the European Regional Development Fund. The authors thank the families and KFMC Research Centre for the partial support (Intramural Research Fund; Demography of Recessive Diseases in KSA; Grant No. 019-052). This work was also supported by King Salman Center for Disability research through Research Group RG-2022-010. Conceptualization: E.C. M.Su. R.M.; Data Curation: E.C. R.M.; Formal Analysis: E.C. H.H. R.M.; Methodology: E.C. M.Sc. M.Su. R.M.; Funding Acquisition: H.H. D.B. F.L. A.G. J.C.T.; Investigation - Computational Methods: M.P.F. J.C.T.; Recruitment, Clinical, and Diagnostic Evaluations: M.Sa. S.A. E.K.B. M.H. K.M.W. D.B. M.Y.V.M. J.S. K.P. K.S. M.J. D.M.N. J.J. R.O.L. D.W. N.Z. L.R. A.G. F.L. M.D.-C. G.H. Y.D. M.D. S.M.S. A.B. N.O. E.A.F. S.B. A.T.V.-v.S. Y.H. A.P.A.S. M.E.N. M.G. A.G. Z.F. M.M. S.E. E.G.K. A.R. M.R. A.L. G.A.-S. M.L. M.B. A.J.M. M.C.D. H.T. D.N.S. A.K. I.V. S.D.M. C.P. M.Sa. A.B. P.S. V.S. R.E.S. E.T. T.B.H. C.P. F.S.A.; Writing-original draft: E.C. M.Su. R.M.; Writing-review and editing: all authors. Individuals (and/or their legal guardians) recruited in a research setting gave informed consent for their research participation. Those individual research studies received approval from the Review Boards and Bioethics Committees at University College London Hospital (project 06/N076) and the other institutions involved in this study. Permission for inclusion of their anonymized medical data in this cohort, including photographs, was obtained using standard forms at each local site by the responsible referring physicians. Funding Information: The authors thank all patients and families for participation in this study. Part of this research was possible thanks to the Deciphering Developmental Disorders study. The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of DECIPHER ( http://www.deciphergenomics.org ), which is funded by Wellcome . See www.ddduk.org/access.html for full acknowledgment. This study was also supported by the Wellcome Trust (WT093205MA and WT104033AIA to H.H. and 203141/Z/16/Z to M.P.F. and J.C.T.), Medical Research Council (H.H.), European Community’s Seventh Framework Programme ( FP7 /2007-2013, under grant agreement No. 2012-305121 to H.H.), the National Institute for Health Research ( NIHR ), University College London Hospitals, Biomedical Research Centre , and Fidelity Foundation. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute . D.B. is supported by NIHR Research Professorship (RP-2016-07-011). F.L. and A.G. received funding from European Union and Région Normandie in the context of Recherche Innovation Normandie 2018. Europe gets involved in Normandie with the European Regional Development Fund. The authors thank the families and KFMC Research Centre for the partial support (Intramural Research Fund; Demography of Recessive Diseases in KSA; Grant No. 019-052). This work was also supported by King Salman Center for Disability research through Research Group RG-2022-010. Publisher Copyright: © 2022 The Authors

Keywords: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

Local EPrints ID: 472172

URI: http://eprints.soton.ac.uk/id/eprint/472172

DOI: doi:10.1016/j.gim.2022.09.016

ISSN: 1098-3600

PURE UUID: dc238c36-9b23-45c8-a67d-9497fc526d74

ORCID for Diana Baralle: orcid.org/0000-0003-3217-4833

Date deposited: 28 Nov 2022 18:09

Last modified: 13 Aug 2024 01:41