Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)
Paternal uniparental heterodisomy (hUPD) at the <i>GNAS</i> locus is also a genetic defect associated with iPPSD3. In the absence of parental samples, our custom MS-MLPA allows for the detection of a methylation defect at the <i>GNAS</i> locus and flanking DMRs, suggestive of uniparental disomy (UPD). We also suggest updating the actual guidelines to include hUPD at the <i>GNAS</i> locus as a cause of iPPSD3.
Authors
- J Morla
- Arrate Pereda (ORCID: https://orcid.org/0000-0002-5442-7873)
- Guiomar Pérez de Nanclares (ORCID: https://orcid.org/0000-0002-2424-5294)
- Yerai Vado (ORCID: https://orcid.org/0000-0003-4156-9159)
- Eduard Mogas (ORCID: https://orcid.org/0000-0001-8501-5364)
- África Manero-Azua (ORCID: https://orcid.org/0000-0001-8176-0463)
Institutions
- Hospital Universitario Araba (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Hospital de Palamós (ES)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-12-16
- DOI
- https://doi.org/10.3389/fendo.2024.1505244
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Eusko Jaurlaritza
- Ministerio de Economía y Competitividad
- Instituto de Salud Carlos III
- European Regional Development Fund