The first report of a gross deletion in the <i>SCNN1G</i> gene in a case presenting with hyponatremic convulsion at fifth year of treatment
This is the first reported case of a homozygous gross deletion in the <i>SCNN1G</i> gene. This case expands the phenotypic and genotypic spectrum of systemic PHA1 and emphasizes the importance of considering copy number variants in genetically unresolved cases of PHA1, especially those presenting with atypical electrolyte profiles and extrarenal manifestations such as persistent eczema.
Authors
- Ahmet Uçar (ORCID: https://orcid.org/0000-0001-8144-8437)
- Aydilek Dağdeviren Çakır (ORCID: https://orcid.org/0000-0001-7136-9241)
- Özge Pelin Akbay (ORCID: https://orcid.org/0000-0002-3092-5624)
- Ayberk Türkyılmaz (ORCID: https://orcid.org/0000-0001-9647-8970)
- Leyla Gizem Bolaç Özyılmaz (ORCID: https://orcid.org/0000-0001-9056-080X)
Institutions
- Karadeniz Technical University (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- Şişli Etfal Eğitim ve Araştırma Hastanesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-11-23
- DOI
- https://doi.org/10.1515/jpem-2025-0372
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00