Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease

Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in <i>PKD</i> 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 (<i>OFD1</i>) gene. This is the first confirmed genetic diagnosis of mutations in the <i>OFD1</i> 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.