Whole exome sequencing unravels disease-causing genes in craniofacial fibrous dysplasia with ocular complications
Craniofacial fibrous dysplasia (CFD) is a complex and rare disorder that involves the craniofacial bones. However, CFD with ocular complications as the first symptom is uncommon and easily missed or misdiagnosed in clinical practice. It is currently reported that CFD arises from somatic mutations in GNAS that can be detected using conventional methods, such as MEMO-PCR and PNA-mediated PCR, but not all patients can be identified. We speculated that these methods may be limited in identifying low frequency variants in the GNAS mosaic mutation or additional disease-causing genes may be present in those patients. Thus, we applied whole exome sequencing (WES) as a molecular diagnostic tool to identify causative mutations in CFD.