{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:17:06Z","timestamp":1790234226192,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T00:00:00Z","timestamp":1193875200000},"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":[[2007,12]]},"abstract":"<jats:p>Mutations in the gene encoding calpain\u20103 (<jats:italic>CAPN3<\/jats:italic>) cause autosomal recessive limb\u2010girdle muscular dystrophy type 2A (LGMD2A) and idiopathic eosinophilic myositis. Accurate diagnosis and genetic counselling are based on the identification of disease\u2010causing mutations on both alleles of <jats:italic>CAPN3<\/jats:italic> in the patients. In the present study, we used transcriptional analysis as a complementary approach for patients suspected of being affected with LGMD2A, in whom initial denaturing high\u2010performance liquid chromatography genomic mutation screening evidenced no or only one <jats:italic>CAPN3<\/jats:italic> mutation obviously considered as disease causing. This allowed to identify and characterize cDNA deletions. Further genomic analysis allowed to determine the origin of these deletions, either as splicing defects caused by intronic mutations or as an internal multi\u2010exonic deletion. In particular, we report two novel <jats:italic>CAPN3<\/jats:italic> mutations (c.1745\u2003+\u20034_1745\u2003+\u20037delAGTG in IVS13 and c.2185\u201016A&gt;G in IVS20) and a recurrent large\u2010sized genomic deletion including exons 2\u20138 for which genomic breakpoints have been characterized. In addition, our results indicate nonsense\u2010mediated messenger RNA decay as a mechanism for under\u2010expression of <jats:italic>CAPN3<\/jats:italic> associated to some specific variations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00906.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T12:02:16Z","timestamp":1279540936000},"page":"582-592","source":"Crossref","is-referenced-by-count":22,"title":["Transcriptional explorations of <i>CAPN3<\/i> identify novel splicing mutations, a large\u2010sized genomic deletion and evidence for messenger RNA decay"],"prefix":"10.1111","volume":"72","author":[{"given":"M","family":"Krahn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"P\u00e9cheux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Chapon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"B\u00e9roud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Drouin\u2010Garraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Laforet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NB","family":"Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Penisson\u2010Besnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Bernard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JA","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Leturcq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"L\u00e9vy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,11]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.717"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90368-2"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20833"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)47225-6"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi217"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2006.05351.x"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.9.1735"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.5.1015"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/302426"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00603.x"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20058"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028738"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh408"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200920"},{"key":"e_1_2_5_16_2","first-page":"11","volume-title":"Comparative Ct method. ABI Prism 7700 Sequence Detection System. User bulletin","author":"Livak K","year":"1997"},{"key":"e_1_2_5_17_2","unstructured":"Leiden Muscular Dystrophy pages\u00a9http:\/\/www.dmd.nl"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20041821"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.10.001"},{"key":"e_1_2_5_20_2","first-page":"1128","article-title":"Multiple independent molecular etiology for limb\u2010girdle muscular dystrophy type 2A patients from various geographical origins","volume":"60","author":"Richard I","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200888"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100598"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.20708"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20480"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00197-8"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0083-3"},{"issue":"1","key":"e_1_2_5_29_2","first-page":"667","article-title":"LGMD2A caused by a large deletion: clinical, histochemical and molecular analysis","volume":"11","author":"Joncourt F","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10108"},{"key":"e_1_2_5_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00906.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00906.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T15:32:29Z","timestamp":1696865549000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00906.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00906.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00906.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":[[2007,11]]}}}