Korean J Med.
2025 Feb;100(1):40-43. 10.3904/kjm.2025.100.1.40.
Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
- Affiliations
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- 1Division of Nephrology, Department of Internal Medicine, Hanyang University Guri Hospital, Guri, Korea
- 2Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea
- 3Division of Nephrology, Department of Internal Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea
- KMID: 2564344
- DOI: http://doi.org/10.3904/kjm.2025.100.1.40
Abstract
- Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.
