Abstract

NGS based Comprehensive Screening in Monogenic Forms of Diabetes in India - Understanding the Diversity

Aaron Chapla, Associate Research Officer, CHRISTIAN MEDICAL COLLEGE AND HOSPITAL

Diabetes mellitus (DM) has become a global pandemic affecting around 382 million people worldwide. With growing evidence from genomic research, several monogenic causes of diabetes have been revealed. Maturity onset of Diabetes of Young (MODY) is the most common form of monogenic diabetes. MODY is caused by mutations in genes primarily involved in ß cell development and functioning and is typically presented before the age of 25 years and is transmitted in an autosomal dominant fashion. Mutations involving 13 different genes have been reported to cause MODY.  Our team has for the first time in our country established and utilized a cost-effective multiplex PCR coupled NGS based approach to screening MODY genes in parallel. Through this study, we have identified a wide spectrum of mutations in MODY along with PDX1 and NEUROD1 digenic mutations. Two of these (identifiers:dd219; dd220  ) MODY cases are included in digenic disease database “DIDA” http://dida.ibsquare.be/detail/?dc-p=dd220.

Recent studies have also shown that NGS based parallel screening is a sensitive and specific method for a heterogeneous disorder like MODY. Therefore, we suggest a comprehensive NGS based MODY gene screening in patients with young onset diabetes, autosomal dominant family history and in the absence of ß-cell autoimmunity.