Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel < b > < i > FAM20C < /i > < /b > 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 theFAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform theFAM20C gene sequence analysis. A novel homozygous variant c.1255T#x3e;C (p.W419R) in theFAM20C 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.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research