Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 28 10 2025 10 01 A Novel Mutation in DDR2 Associated with Warburg-Cinotti Syndrome in a Neonate 592 598 10.34172/aim.34458 EN Junping Xiao https://orcid.org/0009-0002-5677-2408 Chenyu Zhuan https://orcid.org/0009-0004-8581-400X Lingkong Zeng Xuwei Tao https://orcid.org/0000-0002-8178-813X Journal Article 10.34172/aim.34458 2025 04 30 2025 08 10 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.