Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.

Introduction: Jansen-de Vries syndrome (JDVS) is a rare autosomal dominant neurodevelopmental disorder caused by truncating variants in exons 5 and 6 of the Case presentation: A 6-year-old boy presented with delayed language development, learning difficulties, behavioral issues, restrictive eating, and impaired autonomy. His twin brother, although also diagnosed with ASD/ADHD, exhibited milder symptoms. Trio-whole-exome sequencing revealed a Interventions and outcomes: The proband received multidisciplinary interventions including behavioral therapy and speech support. Follow-up showed improvements in language, sleep, and academic performance, though behavioral and sphincter issues persist. The twin without the mutation was discharged from mental health services, while his brother remains under annual review. Conclusion: This case emphasizes the expanding phenotypic spectrum of JDVS and illustrates the diagnostic value of trio-WES in neurodevelopmental disorders with overlapping features. It also highlights the potential for discordant phenotypic expression in twins and the need for individualized diagnostic assessment.