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Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells
Author(s) -
TiemannBoege Irene,
Mair Theresa,
Yasari Atena,
Zurovec Michal
Publication year - 2021
Publication title -
the febs journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 204
eISSN - 1742-4658
pISSN - 1742-464X
DOI - 10.1111/febs.15528
Subject(s) - biology , phenotype , genetics , receptor tyrosine kinase , disease , gene , mutation , tyrosine kinase , signal transduction , medicine , pathology
Gain‐of‐function mutations in the receptor tyrosine kinase pathway are often lethal; yet, it might be tolerated at very low frequencies as postzygotic mosaics resulting in a vast range of new phenotypes, unknown before the detection of the mosaic disorder. With the advent of ultra‐accurate next‐generation sequencing, these undercharacterized mosaics hidden in a few cells can now be better characterized in terms of their biological relevance in disease.