A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications
Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next-generation sequencing. We present a rare cause of neonatal liver disease, a FOCAD gene variant, that was determined to be the most likely cause of an infant's liver disease and other findings. This case adds to only a few reports in the literature on this presentation in the neonatal period.
Authors
- Pınar Bayrak‐Toydemir (ORCID: https://orcid.org/0000-0001-9381-2478)
- Susan H. Morelli
- Catalina Jaramillo (ORCID: https://orcid.org/0000-0003-0437-6569)
- N. Scott Reading (ORCID: https://orcid.org/0000-0003-0806-5661)
- Lorenzo D. Botto (ORCID: https://orcid.org/0000-0002-5322-7116)
- Elizabeth S Doughty (ORCID: https://orcid.org/0000-0002-3813-080X)
- Ariel Tarrell (ORCID: https://orcid.org/0000-0002-5812-3332)
- Luca Brunelli (ORCID: https://orcid.org/0000-0002-9542-2243)
- Juliane Weber
- Gülsen Akay
- Emily Flemming
- Reem Shawar
Institutions
- Intermountain Healthcare (US)
- Primary Children's Hospital (US)
- University of Utah (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- Case Reports in Genetics
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crig/9569160
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00