{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T23:05:29Z","timestamp":1773011129627,"version":"3.50.1"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                           <jats:italic toggle=\"yes\">LMNA<\/jats:italic> gene encodes A-type lamins and the encoded proteins join the structure of the nuclear lamina and affect the processes of nuclear homeostasis, DNA replication, repair, transcription, and apoptosis. <jats:italic toggle=\"yes\">LMNA<\/jats:italic> variants cause a heterogeneous group of diseases known as laminopathies. Phenotypes associated with <jats:italic toggle=\"yes\">LMNA<\/jats:italic> variants mainly affect the heart, skeleton, skin, bones, and nervous system. The affected tissues may vary depending on the site of the variant on the gene and the variation type. Complex phenotypes may also occur in some cases, in which findings of premature aging, cardiomyopathy, mandibuloacral dysplasia, lipodystrophy, renal involvement, metabolic involvement, and myopathy coexist. The pleiotropic effect of <jats:italic toggle=\"yes\">LMNA<\/jats:italic> variants can result in heterogeneous phenotypes. In this study, we aimed to describe atypical phenotypic characteristics in a patient with familial partial lipodystrophy type 2 associated with <jats:italic toggle=\"yes\">LMNA<\/jats:italic> variant, another with mandibuloacral dysplasia, and a third patient with a complex phenotype as well as discuss them in the context of their relationship with the genotype.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000355","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T16:02:33Z","timestamp":1602259353000},"page":"10-16","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant"],"prefix":"10.1097","volume":"30","author":[{"given":"Ayberk","family":"Turkyilmaz","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Erzurum City Hospital, Erzurum"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilgen Bilge","family":"Ge\u00e7kinli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Marmara University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ceren","family":"Alavanda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Marmara University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra Arslan","family":"Ates","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Arman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Marmara University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.metabol.2017.04.010","article-title":"Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.","volume":"72","author":"Akinci","year":"2017","journal-title":"Metabolism"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/1750-1172-7-37","article-title":"The empowerment of translational research: lessons from laminopathies.","volume":"7","author":"Benedetti","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1212\/01.wnl.0000261254.87181.80","article-title":"Phenotypic clustering of lamin A\/C mutations in neuromuscular patients.","volume":"69","author":"Benedetti","year":"2007","journal-title":"Neurology"},{"key":"R5-20250524","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-1-4899-8032-8_2","article-title":"The role of the nuclear lamina in cancer and apoptosis.","volume":"773","author":"Broers","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"R6-20250524","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/nrm3488","article-title":"The nuclear lamins: flexibility in function.","volume":"14","author":"Burke","year":"2013","journal-title":"Nat Rev Mol Cell Biol"},{"key":"R7-20250524","first-page":"7","article-title":"Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.","volume":"32","author":"Carboni","year":"2013","journal-title":"Acta Myol"},{"key":"R8-20250524","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0968-0004(00)01727-8","article-title":"Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina.","volume":"26","author":"Cohen","year":"2001","journal-title":"Trends Biochem Sci"},{"key":"R9-20250524","first-page":"17-0049","article-title":"Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C\u2009>\u2009T LMNA mutation.","volume":"2017","author":"Fountas","year":"2017","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"R10-20250524","doi-asserted-by":"crossref","first-page":"2258","DOI":"10.1002\/ajmg.a.33005","article-title":"Mandibuloacral dysplasia type A in childhood.","volume":"149A","author":"Garavelli","year":"2009","journal-title":"Am J Med Genet A"},{"key":"R11-20250524","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1101\/gad.960502","article-title":"Nuclear lamins: building blocks of nuclear architecture.","volume":"16","author":"Goldman","year":"2002","journal-title":"Genes Dev"},{"key":"R12-20250524","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/978-1-4899-8032-8_17","article-title":"DNA damage and lamins.","volume":"773","author":"Gonzalo","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"R13-20250524","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.2005.00447.x","article-title":"LMNA mutation position predicts organ system involvement in laminopathies.","volume":"68","author":"Hegele","year":"2005","journal-title":"Clin Genet"},{"key":"R14-20250524","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ymgme.2005.10.018","article-title":"Laminopathies: multisystem dystrophy syndromes.","volume":"87","author":"Jacob","year":"2006","journal-title":"Mol Genet Metab"},{"key":"R15-20250524","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","article-title":"Structural organization of the human gene encoding nuclear lamin A and nuclear lamin 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