Molecular or clinical diagnosis of RTT syndrome?

Abstract               Objectives: Children with delayed developmental milestones and behavioral abnormalities are generally misdiagnosed. So we aim to develop molecular diagnosis of RTT. Method: Karyotyping of the cases has been carried out. We standardized PCR protocol and sequencing of MECP2 coding region (Exon 2, 3 and 4).Then studied 23 cases of clinically diagnosed RTT. Result: Clinically diagnosed 23 RTT cases showed normal karyotype. Based on clinical findings, classical RTT cases were 10 (43.48%) and 13 (56.52%) were atypical RTT. We looked for common mutations mentioned by International Rett Syndrome Foundation in 8 out of 10 classical RTT cases and found 1 case (12.5 %) positive for R306C mutation. Rest 7 cases (87.5%) were negative for common RTT mutations we studied. Conclusion: To support and confirm the clinical diagnosis, molecular diagnosis has to be established in case of Rett Syndrome for accurate and better management. This study will assists to calculate RTT incidence in India.

Key Word: RTT syndrome.