{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:04:25Z","timestamp":1767625465329},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,25]],"date-time":"2011-04-25T00:00:00Z","timestamp":1303689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Vaz Rodrigues L, Costa F, Marques P, Mendon\u00e7a C, Rocha J, Seixas S. Severe <jats:italic>\u03b1<\/jats:italic>\u20101 antitrypsin deficiency caused by Q0<jats:sub>Our\u00e9m<\/jats:sub> allele: clinical features, haplotype characterization and history.<\/jats:p><jats:p><jats:italic>\u03b1<\/jats:italic>\u20101 Antitrypsin deficiency (AATD) caused by null alleles is associated with the total lack of protein and generally it translates into more severe clinical features of pulmonary disease. This is the case of Q0<jats:sub>Our\u00e9m<\/jats:sub>, a rare variant found in several families of Central Portugal caused by the L353fsX376 mutation. A total of 41 patients carrying at least one copy of Q0<jats:sub>Our\u00e9m<\/jats:sub> were evaluated for SERPINA1 levels, respiratory function values and lung parenchyma status (chest X\u2010ray and computerized tomography scan). Q0<jats:sub>Our\u00e9m<\/jats:sub> haplotype background was characterized using seven microsatellites flanking <jats:italic>SERPINA1<\/jats:italic> and Q0<jats:sub>Our\u00e9m<\/jats:sub> age was estimated by a statistical method relying on the decay of haplotype sharing at linked markers (DHSMAP).<\/jats:p><jats:p>Homozygous patients showed a compromised lung function and extensive emphysema. SQ0<jats:sub>Our\u00e9m<\/jats:sub>, although having serum levels below the 11 \u00b5M threshold, did not necessarily result in signs of disease. MQ0<jats:sub>Our\u00e9m<\/jats:sub> were found to be a heterogeneous group, mainly composed of normal individuals. Eight Q0<jats:sub>Our\u00e9m<\/jats:sub> haplotypes were identified and the allele was estimated to have arisen 650 years ago. Q0<jats:sub>Our\u00e9m<\/jats:sub> was associated with mild to severe AATD and has a single origin, probably linked to the major Our\u00e9m settlements where the occurrence of severe AATD may not be explained by recent consanguinity.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01670.x","type":"journal-article","created":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T18:14:24Z","timestamp":1301681664000},"page":"462-469","source":"Crossref","is-referenced-by-count":23,"title":["Severe <i>\u03b1<\/i>\u20101 antitrypsin deficiency caused by Q0<sub>Our\u00e9m<\/sub> allele: clinical features, haplotype characterization and history"],"prefix":"10.1111","volume":"81","author":[{"given":"L","family":"Vaz Rodrigues","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Marques","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Mendon\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Seixas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,4,25]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"1","volume-title":"Alpha\u20101\u2010antitrypsin deficiency: Pathophysiology, diagnosis and treatment.","author":"Stolk J","year":"2009"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.06.00062305"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.168.7.818"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2008.01.009"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023903"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620212.x"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113994"},{"key":"e_1_2_7_9_2","first-page":"5","article-title":"Lung volumes and forced ventilatory flows. Report working party standardization of lung function tests, Official statement of the European Respiratory Society.","volume":"16","author":"Quanjer PH","year":"1993","journal-title":"Eur Respir J"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1183\/09041950.041s1693"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050337"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000434"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201643"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/379378"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/319501"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/302537"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.8.1123"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.05.00135704"},{"key":"e_1_2_7_19_2","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1093\/clinchem\/47.1.56","article-title":"Molecular diagnosis of intermediate and severe alpha(1)\u2010antitrypsin deficiency: MZ individuals with chronic obstructive pulmonary disease may have lower lung function than MM individuals.","volume":"47","author":"Dahl M","year":"2001","journal-title":"Clin Chem"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2004.022541"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1165\/ajrcmb.20.3.3144"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2007-0107OC"},{"key":"e_1_2_7_23_2","first-page":"9","article-title":"The TNFalpha gene relates to clinical phenotype in alpha\u20101\u2010antitrypsin deficiency.","volume":"11","author":"Wood AM","year":"2008","journal-title":"Respir Res"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2008.103"},{"key":"e_1_2_7_25_2","unstructured":"ElyseuJNG.\u201cEsbo\u00e7o hist\u00f3rico do concelho de Villa Nova de Our\u00e9m\u201d. In: Our\u00e9m Tr\u00eas contributos para a sua hist\u00f3ria Our\u00e9m Ed. Our\u00e9m Portugal: C\u00e2mara Municipal de Our\u00e9m Estudos e documentos 1994; p. 74."}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2011.01670.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2011.01670.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T18:32:30Z","timestamp":1698777150000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2011.01670.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,25]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1111\/j.1399-0004.2011.01670.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01670.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,25]]}}}