A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment
Canonic splice site variant NM_001375570.1:c.1455 + 1G > T <i>FOCAD</i> (NM_001375570.1):c.1455 + 1G > T realizes through in-frame deletion of 12 amimoacids (p.Thr475_Val486del) of the FOCAD protein with detectable expression in patient-derived cells. Homozygous carrier of this pathogenic variant exhibits progressive hepatic failure expanded with neutropenia. Liver transplantation had a good long-term result, and can be considered as a promising surgical approach for patients with <i>FOCAD</i>-related infantile cirrhosis.
Authors
- Mikhail Skoblov (ORCID: https://orcid.org/0000-0002-7293-3438)
- Elena V. ZAKLYAZMINSKAYA
- Н. А. Семенова
- Anna L. Arakelyan
- Evgeny Tatarsky
- Andrey Surkov
- Arshak Babayan
- Viktoriia Zabnenkova
- Viktoriya Savina
- Ekaterina Nuzhnaya
- Natalia Zhurkova
- Andrey Filin
- Lana Dzik
- Darya Akimova
- Aleksej Metelin
Institutions
- Pirogov Russian National Research Medical University (RU)
- Research Centre for Medical Genetics (RU)
- Federal Agency for Scientific Organizations (RU)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-01-13
- DOI
- https://doi.org/10.3389/fmed.2025.1680857
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Research Centre
- Ministry of Science and Higher Education of the Russian Federation
- Federal Agency for Scientific Organizations
- Pirogov Russian National Research Medical University