{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T12:29:49Z","timestamp":1790512189061,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,9,4]],"date-time":"2006-09-04T00:00:00Z","timestamp":1157328000000},"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":[[2006,10]]},"abstract":"<jats:p>Autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED) is an autosomal\u2010recessive autoimmune disease caused by autoimmune regulator gene mutations. The aim of this study was to examine the mutation profile of Polish APECED patients, determine the carrier rate of the most frequent mutation(s) and estimate disease prevalence. While studying 14 unrelated patients, we identified three novel mutations (c.1A&gt;T, affecting the start codon; [IVS1 + 1G&gt;C; IVS1 + 5delG], a complex mutation affecting splice site; c. 908G&gt;C, p.R303P, a missense mutation in plant homeodomain (PHD) and three previously reported mutations (c.769C&gt;T, p.R257X; c.967_979del13bp, C322fsX372; c.931delT, p.C311fsX376). Eleven patients had mutations on both chromosomes, whereas in three patients only a single alteration with proven or likely pathogenic effect was detected. The most frequent was the p.R257X mutation (71% of chromosomes); its carriage rate was assessed in the background population. Analysis of 2008 samples showed eight heterozygotes, indicating the frequency of 0.40% (1:250) and the disease prevalence \u2013 1:129,000 (95% confidence interval: 1:555,000 to 1:30,000). Comparison with an epidemiological estimate (1:619,000, derived for women) suggested that in Poland, APECED is underdiagnosed. Among the patients, no genotype\/phenotype correlations were found, but we noted that women had earlier onset of hypoparathyroidism (<jats:italic>p<\/jats:italic> &lt; 0.02) and were younger at diagnosis (<jats:italic>p<\/jats:italic> &lt; 0.05) than men.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00690.x","type":"journal-article","created":{"date-parts":[[2006,9,4]],"date-time":"2006-09-04T15:00:34Z","timestamp":1157382034000},"page":"348-354","source":"Crossref","is-referenced-by-count":65,"title":["Molecular background of polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy syndrome in a Polish population: novel <i>AIRE<\/i> mutations and an estimate of disease prevalence"],"prefix":"10.1111","volume":"70","author":[{"given":"B","family":"Stolarski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Pronicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Korniszewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Pollak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Kostrzewa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Rowi\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"W\u0142odarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Sk\u00f3rka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Gremida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Krajewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Ploski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,4]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1101\/gr.7.8.820","article-title":"High\u2010resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy locus on chromosome 21q22.3 by FISH","volume":"7","author":"Aaltonen J","year":"1997","journal-title":"Genome Res"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-393"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1075958"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-001-0306-2"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021495"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0418"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222601"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050846"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01201.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0728-0"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1333-9"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.3928\/0090-4481-19800401-07"},{"key":"e_1_2_6_15_2","first-page":"136","article-title":"Epidemiology of 35delG mutation in GJB2 gene in a Polish population","volume":"10","author":"Mueller\u2010Malesi\u0144ska M","year":"2001","journal-title":"J Audiol Med"},{"key":"e_1_2_6_16_2","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1210\/mend.12.8.0143","article-title":"Common mutations in autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy patients of different origins","volume":"12","author":"Scott HS","year":"1998","journal-title":"Mol Endocrinol"},{"key":"e_1_2_6_17_2","unstructured":"HerbertR.Confidence Interval Calculator (v4 November 2002). 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