Whole Genome Sequencing and Genetic Variation Analysis of Parry-Romberg Syndrome

Parry-Romberg syndrome (PRS) is a rare facial asymmetric deformity. The pathogenesis of PRS is poorly understood. The role of predisposing genetic factors in the development of PRS is still unclear. This study aims to identify pathogenic variants associated with PRS by performing whole-genome sequencing (WGS) and genetic variation analysis.

Nineteen peripheral whole blood samples were collected and sent for WGS from sporadic PRS patients in our department from September 2020 to January 2023. Single-nucleotide variation (SNV), insertion or deletion (InDel), and copy number variation (CNV) were called, filtered, and interpreted for pathogenicity using the PUMP pipeline. An enrichment analysis was performed.

A common pathogenic gene related to PRS was not found through the analysis of SNV/InDel and CNV annotation files. A young female patient diagnosed with right Parry-Romberg syndrome carried a missense mutation in the PORCN gene on the X chromosome. Verifying the relationship between this mutation and the pathogenesis of PRS is needed.

Based on the genetic variation analysis of the WGS data of 19 patients, we believe that the combined effect of genetic and environmental factors should be considered in the pathogenesis of PRS, and the role of genetic factors in the development of PRS needs to be further explored.