A Case of a Fetus With <i>SETD5</i> Mutation: Prenatal Phenotype and Literature Review
This case expands the known mutational spectrum of SETD5. A review of the literature allows for a synthesis of the characteristic clinical features of this rare disorder. Congenital heart defects, including atrial and ventricular septal defects, can serve as early diagnostic indicators. Fetal cardiac ultrasound represents a valuable tool for early screening, underscoring the critical importance of prenatal whole-exome sequencing in such cases.
Authors
- Juanjuan Fan (ORCID: https://orcid.org/0009-0004-9187-3436)
- Hairui Sun (ORCID: https://orcid.org/0000-0002-5868-237X)
- Huimin Xia (ORCID: https://orcid.org/0000-0002-0103-1672)
- Huan Jiang (ORCID: https://orcid.org/0009-0009-9005-0901)
- Yihua He
- Siyao Zhang (ORCID: https://orcid.org/0009-0006-0027-8776)
Institutions
- Army Medical University (CN)
- Capital Medical University (CN)
- Xinqiao Hospital (CN)
- Beijing Anzhen Hospital (CN)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/bdr2.70003
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00