Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome
We report a case from China of <i>PNPLA6</i> gene variants leading to Oliver-McFarlane syndrome, with the patient exhibiting typical characteristics of OMCS. Our findings further substantiate the pathogenicity of <i>PNPLA6</i> gene variation in OMCS, broadening the established genotypic spectrum of the <i>PNPLA6</i> gene. These findings enhance the understanding of its pathogenesis and offer perspectives for clinical diagnosis and management.
Authors
- Yayin Luo (ORCID: https://orcid.org/0000-0002-9551-1625)
- Zhe Wang (ORCID: https://orcid.org/0000-0002-1118-9721)
- Dan Wang (ORCID: https://orcid.org/0000-0002-8583-448X)
- Lixia Chen (ORCID: https://orcid.org/0000-0003-2196-1428)
- Jia Zheng
- Fei Yu (ORCID: https://orcid.org/0000-0002-2824-9866)
- Keqing Li
- Guangxiang Yu
Institutions
- Dalian Medical University (CN)
- First Affiliated Hospital of Dalian Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-05
- DOI
- https://doi.org/10.3389/fgene.2025.1660243
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00