{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:47:26Z","timestamp":1791276446356,"version":"4.1.0"},"reference-count":29,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,10]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Heart\u2013hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the <jats:italic>LMNA<\/jats:italic> gene encoding A-type lamins.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>We report a new <jats:italic>LMNA<\/jats:italic> mutation (c.1609-12T&gt;G, IVS9-12 T&gt;G) that creates a new cryptic splicing site with the retention of 11 intronic nucleotides in the mRNA. This <jats:italic>LMNA<\/jats:italic> mutation segregates with a new type of heart\u2013hand syndrome in a previously reported family suffering from adult onset progressive conduction system disease, atrial and ventricular tachyarrhythmias, sudden death, dilated cardiomyopathy, and brachydactyly with predominant foot involvement. Analysis of the fibroblasts of two affected family members identified for the first time a truncated lamin A\/C protein resulting from the frame shift created by the new splicing site, together with nuclear envelope abnormalities confirming that this <jats:italic>LMNA<\/jats:italic> mutation is pathogenic.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>This new heart\u2013hand syndrome should therefore be considered as a new kind of laminopathy. As part of laminopathies with heart involvement, patients presenting with this phenotype and their relatives are at risk for developing sudden cardiac death and should beneficiate from appropriate <jats:italic>LMNA<\/jats:italic> genetic diagnosis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.060020","type":"journal-article","created":{"date-parts":[[2008,7,9]],"date-time":"2008-07-09T01:02:27Z","timestamp":1215565347000},"page":"666-671","source":"Crossref","is-referenced-by-count":48,"title":["Heart\u2013hand syndrome of Slovenian type: a new kind of laminopathy"],"prefix":"10.1136","volume":"45","author":[{"given":"L","family":"Renou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Stora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Ben","family":"Yaou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Volk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"\u0160inkovec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Demay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Peterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Bonne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,7,8]]},"reference":[{"key":"2025100521355003000_45.10.666.1","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1161\/01.CIR.91.5.1326","article-title":"Genetic heterogeneity of heart-hand syndromes.","volume":"91","author":"Basson","year":"1995","journal-title":"Circulation"},{"key":"2025100521355003000_45.10.666.2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.22.2.236"},{"key":"2025100521355003000_45.10.666.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-21"},{"key":"2025100521355003000_45.10.666.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"2025100521355003000_45.10.666.5","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1399-0004.1990.tb03556.x","article-title":"Heart-hand syndrome II. 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