Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
10.3904/kjm.2025.100.1.40
- Author:
Jiwon LEE
1
;
Jong Eun PARK
;
Sang-Woong HAN
;
Mi-Yeon YU
Author Information
1. Division of Nephrology, Department of Internal Medicine, Hanyang University Guri Hospital, Guri, Korea
- Publication Type:3
- From:Korean Journal of Medicine
2025;100(1):40-43
- CountryRepublic of Korea
- Language:Korean
-
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.
