{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:05:01Z","timestamp":1760144701936,"version":"build-2065373602"},"reference-count":20,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"RSF","award":["22-14-00247"],"award-info":[{"award-number":["22-14-00247"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Lymphedema is a disorder that leads to excessive swelling due to lymphatic insufficiency, resulting in the accumulation of protein-rich interstitial fluid. Primary lymphedema predominantly impacts the lower extremities and is frequently linked to hereditary factors. This condition is known to be associated with variants in several genes, such as FOXC2, FLT4, and SOX18. However, many cases remain unexplained, suggesting undiscovered gene associations. This study describes a novel mutation in the hepatocyte growth factor (HGF) gene, a previously hypothesized candidate for lymphedema pathogenesis. This mutation was identified in affected members of a multigenerational family presenting with primary leg lymphedema, consistent with an autosomal dominant inheritance pattern.<\/jats:p>","DOI":"10.3390\/ijms25105464","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T04:26:29Z","timestamp":1715919989000},"page":"5464","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A HGF Mutation in the Familial Case of Primary Lymphedema: A Report"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-492X","authenticated-orcid":false,"given":"Galina","family":"Koksharova","sequence":"first","affiliation":[{"name":"Institute of Cytology and Genetics, Lavrentyev Prospekt, 10, 630090 Novosibirsk, Russia"},{"name":"Department of Natural Sciences, Novosibirsk State University, 2 Pirogov Street, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Kokh","sequence":"additional","affiliation":[{"name":"Department of Natural Sciences, Novosibirsk State University, 2 Pirogov Street, 630090 Novosibirsk, Russia"},{"name":"Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gridina","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Lavrentyev Prospekt, 10, 630090 Novosibirsk, Russia"},{"name":"Department of Natural Sciences, Novosibirsk State University, 2 Pirogov Street, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6861-7152","authenticated-orcid":false,"given":"Rustam","family":"Khapaev","sequence":"additional","affiliation":[{"name":"Research Institute of Clinical and Experimental Lymphology, Branch of the Institute of Cytology and Genetics, Timakova Street, 2, 630060 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9889-3729","authenticated-orcid":false,"given":"Vadim","family":"Nimaev","sequence":"additional","affiliation":[{"name":"Research Institute of Clinical and Experimental Lymphology, Branch of the Institute of Cytology and Genetics, Timakova Street, 2, 630060 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veniamin","family":"Fishman","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Lavrentyev Prospekt, 10, 630090 Novosibirsk, Russia"},{"name":"Department of Natural Sciences, Novosibirsk State University, 2 Pirogov Street, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/ng772","article-title":"Mutations in PTPN11, Encoding the Protein Tyrosine Phosphatase SHP-2, Cause Noonan Syndrome","volume":"29","author":"Tartaglia","year":"2001","journal-title":"Nat. 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