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

Publication date: Available online 12 October 2017
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
BackgroundKohlschutter-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.MethodsIn order to confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the eleven exons of ROGDI gene. 50ng of chromosomal DNA extracted from peripheral blood of the patient and his parents were then used to amplify with the above primers and were subjected to direct sequencing with the same primers.ResultGenetic analysis identified a novel homozygous nonsense mutation in the exon 6 of ROGDI gene that caused premature termination of ROGDI translation resulting in truncation and loss of function of the ROGDI protein. Taken together, the clinical presentation and loss of function mutation in ROGDI gene confirms the clinical diagnosis of KTS.



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