A novel ROGDI gene mutation is associated with kohlschutter-tonz syndrome

Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta besides dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of ROGDI gene, which indeed has been reported in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS.

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