Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E Lewis, Suvasini Sharma, Shruti Bajaj, Naveen Sankhyan, Shahyan Siddiqui, Shalini S Nayak, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings...
December 20, 2023: European Journal of Human Genetics: EJHG