An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.

ABSTRACT: Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi-organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling of FAM111B and associated fibrotic pathways. Post-mortem formalin-fixed paraffin-embedded (FFPE) tissues from a POIKTMP patient and healthy controls were analysed. Genomic DNA was extracted, confirming the FAM111B Y621D mutation via Sanger sequencing. RT-qPCR and the RT² Profiler PCR Array were used to evaluate fibrosis-related gene expression in lung and skin tissues. Disease and pathway enrichment analyses were conducted using Metascape,

SUBMITTER: Tambwe N 

PROVIDER: S-EPMC12500408 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature