Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. ShawPaul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Alkuperäiskielienglanti
Artikkeli100232
LehtiHuman Genetics and Genomics Advances
Vuosikerta4
Numero4
Sivumäärä13
ISSN2666-2477
DOI - pysyväislinkit
TilaJulkaistu - 12 lokak. 2023
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

Funding Information:
We thank the families for their participation and support. We extend our gratitude and respect to our friend and colleague, Dr. Deborah A. Nickerson, who passed away in December 2021. She was a leader in human genomics research and a passionate advocate for trainees and women in science and contributed to hundreds of discoveries that have set the stage for precision medicine. We thank NBDPS scientists, staff, and the Genetics Collaborative Working Group; the California Department of Public Health, Maternal Child and Adolescent Health Division for providing surveillance data; the Labatt Family Heart Centre Biobank at the Hospital for Sick Children for access to DNA samples; the Exome Aggregation Consortium and contributors for reference exome data; and all contributors to Geno2MP for use of data included in Geno2MP. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention, the National Institutes of Health, or the California Department of Public Health. Sequencing was provided by the University of Washington Center for Mendelian Genomics and was supported by National Human Genome Research Institute and National Heart, Lung, and Blood Institute grants UM1 HG006493 and U24 HG008956. This work was also supported by Centers for Disease Control and Prevention cooperative agreements under PA #96043, PA #02081, FOA #DD09-001, FOA #DD13-003, and NOFO #DD18-001 to the Centers for Birth Defects Research and Prevention participating in NBDPS and/or the Birth Defects Study to Evaluate Pregnancy exposures, Finnish Medical Foundation, Finnish Foundation for Pediatric Research, Finnish Foundation for Cardiovascular Research, University of Helsinki, and Academy of Finland (grant 331405); National Institute of Child Health and Human Development grant HD095937; Nationwide Children's Hospital Foundation; and NHLBI grant HL109759-A1. S.M. was funded by the Canadian Institutes of Health Research under the frame of ERA PerMed, the Ted Rogers Centre for Heart Research, and the Heart and Stroke Foundation of Canada/Robert M Freedom Chair in Cardiovascular Science. M.J.B. and J.X.C. are the editor-in-chief and deputy editor, respectively, of Human Genetics and Genomics Advances and were recused from the editorial handling of this article. J.J.W. is an employee and shareholder of Invitae. M.J.B. is chair of the Scientific Advisory Board of GeneDx. S.M. is on the Hypertrophic Cardiomyopathy Advisory Board of Bristol-Myers Squibb.

Funding Information:
We thank the families for their participation and support. We extend our gratitude and respect to our friend and colleague, Dr. Deborah A. Nickerson, who passed away in December 2021. She was a leader in human genomics research and a passionate advocate for trainees and women in science and contributed to hundreds of discoveries that have set the stage for precision medicine. We thank NBDPS scientists, staff, and the Genetics Collaborative Working Group; the California Department of Public Health, Maternal Child and Adolescent Health Division for providing surveillance data; the Labatt Family Heart Centre Biobank at the Hospital for Sick Children for access to DNA samples; the Exome Aggregation Consortium and contributors for reference exome data; and all contributors to Geno2MP for use of data included in Geno2MP. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention, the National Institutes of Health, or the California Department of Public Health. Sequencing was provided by the University of Washington Center for Mendelian Genomics and was supported by National Human Genome Research Institute and National Heart, Lung, and Blood Institute grants UM1 HG006493 and U24 HG008956 . This work was also supported by Centers for Disease Control and Prevention cooperative agreements under PA #96043 , PA #02081 , FOA #DD09-001 , FOA #DD13-003 , and NOFO #DD18-001 to the Centers for Birth Defects Research and Prevention participating in NBDPS and/or the Birth Defects Study to Evaluate Pregnancy exposures , Finnish Medical Foundation , Finnish Foundation for Pediatric Research , Finnish Foundation for Cardiovascular Research , University of Helsinki , and Academy of Finland (grant 331405 ); National Institute of Child Health and Human Development grant HD095937 ; Nationwide Children’s Hospital Foundation ; and NHLBI grant HL109759-A1 . S.M. was funded by the Canadian Institutes of Health Research under the frame of ERA PerMed , the Ted Rogers Centre for Heart Research , and the Heart and Stroke Foundation of Canada /Robert M Freedom Chair in Cardiovascular Science.

Publisher Copyright:
© 2023 The Author(s)

Tieteenalat

  • 3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet
  • 1184 Genetiikka, kehitysbiologia, fysiologia

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