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To date, the disease has been linked to 15 pathogenic variants in the\n                    <jats:italic>ACVR1<\/jats:italic>\n                    gene, which encodes a type I receptor for bone morphogenetic proteins. Most patients with FOP carry a recurrent single-nucleotide substitution (c.617G&gt;A; p.Arg206His) in the\n                    <jats:italic>ACVR1<\/jats:italic>\n                    gene. The genotype\u2013phenotype correlations for atypical pathogenic variants of\n                    <jats:italic>ACVR1<\/jats:italic>\n                    are poorly understood. In this study, we report the largest population of Polish patients affected by FOP and analyze their phenotypes and genotypes. We screened the whole\n                    <jats:italic>ACVR1<\/jats:italic>\n                    coding sequence of 16 patients affected by FOP to confirm the presence of pathogenic variants. Thirteen individuals carried the classic pathogenic variant (p.Arg206His) and had a classic or FOP-plus phenotype. In agreement with the findings of previous studies, one patient with a p.Gly356Asp pathogenic variant had a variant FOP phenotype. We point to an unusual phenomenon in two patients who carried atypical pathogenic variants (p.Gly356Asp and p.Arg258Ser) and displayed a classic FOP phenotype. Our study extends the understanding of FOP\u2019s genotype\u2013phenotype correlation, suggesting that classic FOP phenotypes are associated with non-classic pathogenic variants. We also summarize the recent advances in drug development for this condition. Therefore, the study may be valuable for clinicians consulting patients with FOP.\n                  <\/jats:p>","DOI":"10.1007\/s13353-025-00966-4","type":"journal-article","created":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T02:00:22Z","timestamp":1744423222000},"page":"193-203","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies"],"prefix":"10.1007","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4848-9012","authenticated-orcid":false,"given":"Anna","family":"Szoszkiewicz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3285-9130","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Szczepanek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0509-1696","authenticated-orcid":false,"given":"Ewelina","family":"Bukowska-Olech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2493-898X","authenticated-orcid":false,"given":"Anna","family":"Sowi\u0144ska-Seidler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0767-7511","authenticated-orcid":false,"given":"Magdalena","family":"Socha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4058-3901","authenticated-orcid":false,"given":"Aleksander","family":"Jamsheer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,12]]},"reference":[{"key":"966_CR1","doi-asserted-by":"publisher","first-page":"2162","DOI":"10.3390\/genes14122162","volume":"14","author":"S Anwar","year":"2023","unstructured":"Anwar S, Yokota T (2023) Navigating the complex landscape of fibrodysplasia ossificans progressiva: from current paradigms to therapeutic frontiers. 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