Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

e-pub ahead of print date: 13 January 2022

Published date: May 2022

Additional Information: Funding Information: Wellcome Sanger Institute, Grant/Award Number: WT098051; Wellcome and the Department of Health; Health Innovation Challenge Fund, Grant/Award Number: HICF‐1009‐003 Funding information Funding Information: The authors are grateful to the individuals and families with Myhre syndrome, supportive colleagues, and to the Myhre Syndrome Foundation who have supported our research. They acknowledge the role of geneticist Louisa C. Pyle, MD, PhD in diagnosing Patient 5. This study was in part generated within the European Reference Network ITHACA. The authors thank Dr Julie Vogt from Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham for confirmation of the trio WES result in Patient 3 who had participated in the Deciphering Developmental Disorders (DDD) research study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. Funding Information: The authors are grateful to the individuals and families with Myhre syndrome, supportive colleagues, and to the Myhre Syndrome Foundation who have supported our research. They acknowledge the role of geneticist Louisa C. Pyle, MD, PhD in diagnosing Patient 5. This study was in part generated within the European Reference Network ITHACA. The authors thank Dr Julie Vogt from Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham for confirmation of the trio WES result in Patient 3 who had participated in the Deciphering Developmental Disorders (DDD) research study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF‐1009‐003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. Publisher Copyright: © 2022 Wiley Periodicals LLC.

Keywords: Myhre syndrome, SMAD4, conotruncal heart defects, neural crest, restrictive cardiomyopathy, tetralogy of Fallot

Local EPrints ID: 455341

URI: http://eprints.soton.ac.uk/id/eprint/455341

DOI: doi:10.1002/ajmg.a.62645

ISSN: 1552-4825

PURE UUID: ba903f5d-e22d-48c6-84e7-366ea8d0bb2f

Date deposited: 17 Mar 2022 17:35

Last modified: 16 Mar 2024 16:13