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Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

2025-06-30

Abstract excerpt

<h4>Background</h4> Structural variants (SVs) that disrupt topologically associating domains (TADs) can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to cause X-linked acrogigantism (X-LAG) by enabling aberrant expression of GPR101 through hijacking of enhancers at VGLL1 . However, not all GPR101 -containing duplications are pathogenic, presenting a diagnostic c...

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Literature Corpus work
04d669a7-0e72-5a2d-b660-b5f6a5b5efba
DOI
10.1101/2025.06.27.25329768
Open publication

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Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTREDOI 10.1101/2025.06.27.25329768
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