Non-penetrant Xq26.3 duplication involving the invariant TAD border: clinical evidence for the VGLL1 region as the GPR101 pituitary enhancer of X-linked acrogigantism
Our clinical findings suggest that TAD border involvement is not sufficient for X-LAG to develop, and implicates the VGLL1 region as likely the sole pituitary enhancer responsible for GPR101 misexpression and the X-LAG phenotype. Pending corroborative studies, this new insight into X-LAG pathogenesis may guide interpretation of future Xq26.3 duplications and counselling of families in whom such duplications are found.
Authors
- Samuel D. Curtis (ORCID: https://orcid.org/0000-0002-5311-2001)
- Cathie Hilditch
- Sunita M C De Sousa (ORCID: https://orcid.org/0000-0003-0127-6482)
- Samuel Cotton (ORCID: https://orcid.org/0009-0005-9205-822X)
- Shannon LeBlanc (ORCID: https://orcid.org/0000-0002-3396-9454)
Institutions
- South Australia Pathology (AU)
- Royal Adelaide Hospital (AU)
- Women's and Children's Health Network (AU)
- The University of Adelaide (AU)
Publication Details
- Journal
- Pituitary
- Published
- 2025-07-20
- DOI
- https://doi.org/10.1007/s11102-025-01559-4
- Citations
- 1
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- University of Adelaide