Deletion of conserved non ‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

ConclusionWe propose that the deletion of potential regulatory elements necessary forNKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease ‐causing mechanism for BHC.

Source: Molecular Genetics & Genomic Medicine - March 5, 2021 Category: Genetics & Stem Cells Authors: Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan ‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Ra Tags: CLINICAL REPORT Source Type: research