Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel 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 gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the gene sequence analysis. A novel homozygous variant c.1255T>C (p.W419R) in the 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.