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

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

Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating th...

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Bibliographic Details
Main 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 Rajkovic, Svetlana A. Yatsenko, Urvashi Surti
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
benign hereditary chorea
chromosome 14q13.2‐q13.3
copy number variations
NKX2‐1
non‐coding regulatory elements
Online Access:https://doi.org/10.1002/mgg3.1647

Internet

https://doi.org/10.1002/mgg3.1647

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