Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study
Exome analysis nominated new susceptibility genes (FGF13, ILF3, RBM10, SPOP) and detected a variant in a known candidate gene (UBA2). Follow-up investigation is needed to ascertain damaging variants in these genes in additional cases with SHFM and evaluate the impact of the variants on gene expression, protein function, and limb development.
Authors
- Müge Güçsavaş‐Çalıkoğlu (ORCID: https://orcid.org/0000-0001-7132-385X)
- Cynthia A. Moore (ORCID: https://orcid.org/0000-0003-4224-2692)
- Elizabeth Blue (ORCID: https://orcid.org/0000-0002-0633-0305)
- Mohammed S. Orloff (ORCID: https://orcid.org/0000-0002-5920-0627)
- Mahsa M. Yazdy (ORCID: https://orcid.org/0000-0002-7415-5350)
- Tonia C. Carter (ORCID: https://orcid.org/0000-0002-2107-7838)
- Janson J. White (ORCID: https://orcid.org/0000-0002-5701-728X)
- Gary M. Shaw (ORCID: https://orcid.org/0000-0001-7438-4914)
- Andrew F. Olshan (ORCID: https://orcid.org/0000-0001-9115-5128)
- Faith Pangilinan (ORCID: https://orcid.org/0000-0003-0486-1134)
- Lorenzo D. Botto (ORCID: https://orcid.org/0000-0002-5322-7116)
- Paul A. Romitti (ORCID: https://orcid.org/0000-0001-5393-9984)
- Pagna Sok (ORCID: https://orcid.org/0000-0001-8210-4580)
- Jennita Reefhuis (ORCID: https://orcid.org/0000-0002-4747-4831)
- A. J. Agopian (ORCID: https://orcid.org/0000-0002-5874-4155)
- Horacio Gómez-Acevedo (ORCID: https://orcid.org/0000-0002-1570-1606)
- Lynn M. Almli (ORCID: https://orcid.org/0000-0003-4399-807X)
- Marilyn L. Browne (ORCID: https://orcid.org/0000-0002-1872-2787)
- Michael J. Bamshad (ORCID: https://orcid.org/0000-0002-9647-0861)
- Philip J. Lupo (ORCID: https://orcid.org/0000-0003-0978-5863)
- Jessica X. Chong (ORCID: https://orcid.org/0000-0002-1616-2448)
- Mary M. Jenkins (ORCID: https://orcid.org/0000-0002-4399-1348)
- Meredith M. Howley (ORCID: https://orcid.org/0000-0002-8420-5040)
- Wendy N. Nembhard (ORCID: https://orcid.org/0000-0002-8318-4049)
- Denise M. Kay (ORCID: https://orcid.org/0000-0002-9928-2698)
- Lawrence C. Brody (ORCID: https://orcid.org/0000-0001-9435-3592)
- Christopher Cunniff (ORCID: https://orcid.org/0000-0002-6041-477X)
- Richard S. Olney
Institutions
- Boston University (US)
- University of North Carolina at Chapel Hill (US)
- University of Iowa (US)
- Centers for Disease Control and Prevention (US)
- New York State Department of Health (US)
- National Institutes of Health (US)
- Massachusetts Department of Public Health (US)
- Wadsworth Center (US)
- Baylor College of Medicine (US)
- University of Washington (US)
- Cornell University (US)
- University of Utah (US)
- University of Washington Medical Center (US)
- University at Albany, State University of New York (US)
- National Human Genome Research Institute (US)
- National Center on Birth Defects and Developmental Disabilities (US)
- Brotman Baty Institute (US)
- Marshfield Clinic (US)
- University of Arkansas for Medical Sciences (US)
- The University of Texas Health Science Center at Houston (US)
- Stanford University (US)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-04-30
- DOI
- https://doi.org/10.1002/bdr2.2472
- Citations
- 1
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 1.64
Funders
- Centers for Disease Control and Prevention
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute