Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

ConclusionThis study revealed that the c.1309G>A (p. Gly437Ser) variant in the COL1A1 gene may be the genetic cause of fetal OI in this case. The discovery of this variant enriched the variation spectrum of OI. WES improves the accurate diagnosis of fetal OI, and doctors can provide patients with appropriate genetic counseling.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research