Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant

Raine syndrome (RS) is a rare genetic disorder characterized by osteosclerotic bone dysplasia caused by a homozygous mutation, compound heterozygous mutation, or microdeletion in the FAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the FAM20C gene sequence analysis. A novel homozygous variant c.1255T>C (p.W419R) in the FAM20C gene was diagnosed, and a nonlethal RS phenotype was confirmed, thus contributing to the expansion of the nonlethal RS phenotype. Since there is limited information about rare diseases, we believe that these studies will contribute to the literature and to the understanding of how these disorders develop and progress.

Automated summary

A novel homozygous variant in the FAM20C gene was identified in this study, expanding the spectrum of nonlethal Raine syndrome phenotype and contributing to a better understanding of how these disorders develop and progress, which is particularly valuable for rare diseases where information is limited.