{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:50:10Z","timestamp":1791975010149,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,19]],"date-time":"2009-10-19T00:00:00Z","timestamp":1255910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hutchinson\u2013Gilford progeria is a rare genetic disorder resulting from mutations in the <jats:italic>LMNA<\/jats:italic> gene encoding lamin A\/C. In addition to the classical phenotype usually caused by the 1824C&gt;T mutation of <jats:italic>LMNA<\/jats:italic>, a number of atypical progeroid syndromes have been described. They have some distinct features, such as skeletal deformities or scleroderma\u2010like skin changes. The underlying defect is usually a homozygous mutation of <jats:italic>LMNA<\/jats:italic>, or a combined defect of <jats:italic>LMNA<\/jats:italic> and another gene, for example, <jats:italic>ZMPSTE\u201024<\/jats:italic>. We present a 2\u2010year\u2010old girl born to consanguineous parents affected by progeroid syndrome with scleroderma\u2010like skin changes. Genetic analysis revealed the homozygous <jats:italic>LMNA<\/jats:italic> mutation 1303C&gt;T (R435C). The same heterozygous mutation was found in the patient's parents and 11 other family members. The progeroid syndrome in our patient shares the signs of two laminopathies: progeria and restrictive dermatopathy. Two other children in the family died at the age of 2 due to a disease similar to that in the proposita. On the basis of the family pedigree we presume that these children probably had the same homozygous <jats:italic>LMNA<\/jats:italic> mutation. Scleroderma\u2010like skin changes in infants, associated with growth retardation and dysmorphic features, suggest premature aging syndrome, requiring genetic testing and counseling of asymptomatic carriers of <jats:italic>LMNA<\/jats:italic> mutations. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33018","type":"journal-article","created":{"date-parts":[[2009,10,19]],"date-time":"2009-10-19T20:28:02Z","timestamp":1255984082000},"page":"2387-2392","source":"Crossref","is-referenced-by-count":31,"title":["Progeroid syndrome with scleroderma\u2010like skin changes associated with homozygous R435C <i>LMNA<\/i> mutation"],"prefix":"10.1002","volume":"149A","author":[{"given":"Agnieszka","family":"Madej\u2010Pilarczyk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danuta","family":"Rosi\u0144ska\u2010Borkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"R\u0119kawek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"Marchel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Szalu\u015b","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Jab\u0142o\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Hausmanowa\u2010Petrusewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg213"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg616"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084125"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113.19.3473"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247175"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2005.01.019"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31346"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2000.01775.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl951"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh265"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi159"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/341908"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019661"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a002860"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1635-x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029751"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl171"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.4.1148"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.131.1.33"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-004-0589-1"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.e132"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33018","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:35:33Z","timestamp":1697632533000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,28]]},"references-count":22,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/ajmg.a.33018"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33018","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,28]]}}}