TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders

Abstract Pathogenic germline variants in telomerase (TERT) cause telomere biology disorders (TBDs) and are associated with bone marrow failure, pulmonary fibrosis, and other complications. TERT c.3150 G > C (p.K1050N) is frequent in the Ashkenazi Jewish (ASH) population and has been identified in...

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Main Authors: Kelvin César de Andrade, Emilia M. Pinto, Tianna Zhao, Logan P. Zeigler, Jung Kim, Neelam Giri, Jeremy S. Haley, Lisa J. McReynolds, Oscar Florez-Vargas, Aaron H. Phillips, Richard W. Kriwacki, Sherifa A. Akinniyi, Scott B. Cohen, Matthew R. Emerson, Diane T. Smelser, Gretchen M. Urban, Cintia Fridman, Gerard P. Zambetti, Tracy M. Bryan, David J. Carey, Christine Kim Garcia, Douglas R. Stewart, Sharon A. Savage
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00501-8
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