A Novel Mutation in DDR2 Associated with Warburg-Cinotti Syndrome in a Neonate

Abstract

Warburg-Cinotti syndrome (WCS) is a rare disorder caused by mutations in the DDR2 gene. We report the first neonatal case with a novel WCS variant, aiming to explore its clinical and genetic characteristics. Clinical data were collected and analyzed retrospectively, and whole exome sequencing (WES) was performed for the family. The patient exhibited significant respiratory distress due to choanal abnormalities, unlike previous reports. WES revealed a maternally inherited heterozygous missense mutation in DDR2 (c.431A>G, p.Asn144Ser). In-vitro experiments showed that the mutated DDR2 fails to activate the p38 MAPK pathway. The study suggests that this novel mutation may contribute to the patient’s condition, especially in the neonatal period, and may expand the phenotypic spectrum, providing new references for clinical diagnosis and gene therapy.

Keywords: Discoidin domain, Discoidin domain receptor 2, Neonatal respiratory distress, Warburg-Cinotti syndrome