{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T02:16:37Z","timestamp":1767665797966},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T00:00:00Z","timestamp":1172793600000},"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":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>CHD7<\/jats:italic> mutations account for about 60\u201365% among more than 200 CHARGE syndrome cases. When rare whole gene deletion cases associated with chromosomal abnormalities are excluded, all mutations of <jats:italic>CHD7<\/jats:italic> reported to date have been point mutations and small deletions and insertions, rather than exonic deletions. To test whether exonic deletions represent a common pathogenic mechanism, we assessed exon copy number by using a recently developed method, the multiplex PCR\/liquid chromatography assay (MP\/LC). Multiple exons were amplified using unlabeled primers, then separated by ion\u2010pair reversed\u2010phase high\u2010performance liquid chromatography, and quantitated by fluorescence detection using a post\u2010column intercalation dye under the premise that the relative peak intensities for each target directly reflect exon copy number. By using MP\/LC, we identified one CHARGE syndrome patient who had a de novo deletion encompassing exons 8\u201312 among 13 classic CHARGE patients in whom screening by denaturing high\u2010performance liquid chromatography (DHPLC) failed to identify point mutations and small insertions\/deletions in <jats:italic>CHD7<\/jats:italic>. This is the first CHARGE patient who was documented to have exonic deletion of <jats:italic>CHD7<\/jats:italic>. The deletion closely recapitulated the <jats:italic>Alu<\/jats:italic>\u2010mediated inactivation of the human <jats:italic>CMP\u2010N\u2010acetylneuraminic acid hydroxylase<\/jats:italic> gene (CMP\u2010Neu5Ac hydroxylase), which is regarded as a novel molecular mechanism in the evolution from non\u2010human primates to humans. As demonstrated in this study, MP\/LC is a promising method for characterizing exonic deletions, which are largely left unexamined in most routine mutation analysis. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31441","type":"journal-article","created":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T18:26:01Z","timestamp":1172859961000},"page":"721-726","source":"Crossref","is-referenced-by-count":29,"title":["An <i>Alu<\/i> retrotransposition\u2010mediated deletion of <i>CHD7<\/i> in a patient with CHARGE syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Toru","family":"Udaka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michihiko","family":"Aramaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiharu","family":"Torii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noboru","family":"Hosokai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Hayakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoyuki","family":"Takahata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.044"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.12.5695"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnh137"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031930"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.191268198"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.033"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036160"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20035"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.1110"}],"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.31441","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T13:29:27Z","timestamp":1700054967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,2]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["10.1002\/ajmg.a.31441"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31441","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,2]]}}}