Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntingtons Disease from India
Nikhil Ratna, Sowmya Devatha Venkatesh, Swathi Pasupulati, Geetanjali Murari, Nitish L. Kamble, Biju Viswanath, Ravi Yadav, Mathew Varghese, Pramod Kumar Pal, Sanjeev Jain, Meera Purushottam
The paper analyzes allelic diversity and CAG repeat instability in HD patients from India, finding a strong inverse correlation between repeat length and age at onset, and reporting de novo expansions.
medRxiv · Mar 3, 2025 · PreprintGenetic & Genomic Medicine