{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:25:33Z","timestamp":1790965533768,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,21]],"date-time":"2012-03-21T00:00:00Z","timestamp":1332288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase\u20101 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (<jats:italic>TGM1<\/jats:italic>) gene in chromosome 14.<\/jats:p><jats:p><jats:bold>Case report\u2002<\/jats:bold> We report a patient with a severe LI phenotype who has a homozygous putative splicing mutation in the <jats:italic>TGM1<\/jats:italic> gene. Our aim is to assess the pathologic effect of the <jats:italic>TGM1<\/jats:italic> c.984+1G&gt;A by splicing assays and bioinformatic tools.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> c.984+1G&gt;A mutation created two alternative TGM1 mRNA splice variants that included 30 or 32 nucleotides of the 5\u2032 of intron 6. At the protein level, the partial in\u2010frame aberrant transcript retaining 30 bp of intron 6 led to the insertion of 10 amino acids (p.Met329_Val330ins10) at the catalytic core domain of TGM1 protein (codons 247\u2013572), whereas the transcript with the insertion of 32 nucleotides is predicted to encode a truncated protein (p.Val330MetfsX12).<\/jats:p><jats:p><jats:bold>Conclusion\u2002<\/jats:bold> Our splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G&gt;A mutation in the <jats:italic>TGM1<\/jats:italic> gene and unravels the molecular mechanism by which c.984+1G&gt;A acts.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2011.05171.x","type":"journal-article","created":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T00:11:34Z","timestamp":1332461494000},"page":"427-430","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Characterization of <i>TGM1<\/i> c.984+1G&gt;A mutation identified in a homozygous carrier of lamellar ichthyosis"],"prefix":"10.1111","volume":"51","author":[{"given":"Laura","family":"Fachal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Rodr\u00edguez\u2010Pazos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Ginarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Beiras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M.","family":"Su\u00e1rez\u2010Pe\u00f1aranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Toribio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngel","family":"Carracedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,21]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20952"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200224"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000284"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7824952"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/18.9.1250"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-4632.2011.05171.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-4632.2011.05171.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T00:40:13Z","timestamp":1697330413000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-4632.2011.05171.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,21]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1111\/j.1365-4632.2011.05171.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-4632.2011.05171.x","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,21]]},"assertion":[{"value":"2012-03-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}