{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:08:38Z","timestamp":1791266918382,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T00:00:00Z","timestamp":1347926400000},"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":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hutchinson\u2013Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C&gt;T (p.Gly608Gly) mutation within exon 11 in the Lamin A\/C encoding gene (<jats:italic>LMNA<\/jats:italic>). Besides \u201ctypical HGPS,\u201d several \u201catypical progeria\u201d syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous <jats:italic>LMNA<\/jats:italic> mutations other than the p.Gly608Gly, or due to homozygous <jats:italic>BAFN1<\/jats:italic> mutations in Nestor\u2013Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non\u2010consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G&gt;A (p.Glu138Lys) of the <jats:italic>LMNA<\/jats:italic> gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35557","type":"journal-article","created":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T17:19:18Z","timestamp":1347988758000},"page":"2881-2887","source":"Crossref","is-referenced-by-count":47,"title":["An inherited <i>LMNA<\/i> gene mutation in atypical Progeria syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Yassamine","family":"Doubaj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annachiara","family":"De Sandre\u2010Giovannoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteves\u2010Vieira","family":"Vera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire Laure","family":"Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siham Chafai","family":"Elalaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Tajir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"L\u00e9vy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34249"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021506"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14069-X"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015651"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084125"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3904\/kjim.2009.24.1.68"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0472"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402943101"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.06.012"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31346"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0939"},{"key":"e_1_2_7_14_1","first-page":"165","article-title":"Perturbation of alternative splicing in a novel cardiocutaneous progeria syndrome caused by mutation in lamin A\/C","volume":"73","author":"Judge DP","year":"2003","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20359"},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1055\/s-0035-1557377","article-title":"Novel LMNA mutation in a patient with progeroid phenotype","volume":"5","author":"Lehwald LM","year":"2007","journal-title":"J Pediatr Neurol"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2009.01324.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33018"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32627"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-27302008000800008"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2008.00676.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.108.531780"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1297"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl172"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30663"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32259"}],"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.35557","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35557","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T03:25:03Z","timestamp":1694575503000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,18]]},"references-count":25,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1002\/ajmg.a.35557"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35557","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,18]]}}}