New patients with duplication of the pituitary gland–plus syndrome, including a <i>PTCH2</i> variant and a literature review
Two new cases of DPG-plus syndrome were reported, with rare findings of epignathus and choanal atresia. We propose that DPG-plus syndrome may result from a double hit in one of the genes involved in <i>SHH</i> signalling, arising from a germline pathogenic variant with mosaicism for a somatic pathogenic variant or digenic/oligogenic inheritance of the <i>SHH</i> signalling-related genes.
Authors
- Lukana Ngiwsara (ORCID: https://orcid.org/0000-0002-8960-5692)
- Arthaporn Khongkraparn
- Anne Slavotinek (ORCID: https://orcid.org/0000-0001-7053-2449)
- Anucha Thatrimontrichai (ORCID: https://orcid.org/0000-0003-2363-6362)
- Duangrurdee Wattanasirichaigoon (ORCID: https://orcid.org/0000-0003-2329-2176)
- Jisnuson Svasti (ORCID: https://orcid.org/0000-0002-2217-4517)
- Gunlawadee Maneenil (ORCID: https://orcid.org/0000-0002-6332-3216)
- Thiparom Sananmuang (ORCID: https://orcid.org/0000-0001-5556-2324)
- Sarayuth Dumrongwongsiri
- Phannee Sawangareetrakul
- Pattima Pakhathirathien (ORCID: https://orcid.org/0009-0003-2437-8577)
- Kochakorn Buasri
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Prince of Songkla University (TH)
- Mahidol University (TH)
- Chulabhorn Research Institute (TH)
- University of Cincinnati (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-08-12
- DOI
- https://doi.org/10.1136/jmg-2024-110417
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chulabhorn Research Institute
- Thailand Science Research and Innovation
- Ramathibodi Foundation