{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:31:35Z","timestamp":1761845495069,"version":"3.41.2"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,31]],"date-time":"2021-12-31T00:00:00Z","timestamp":1640908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31801046"],"award-info":[{"award-number":["31801046"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital microtia is a common craniofacial malformation resulting from both environmental and genetic factors. Recurrent chromosomal imbalances were observed in patients with microtia. The 22q11.2 deletion is one of the most common microdeletions in human beings. The cell division cycle 45\u00a0gene (<jats:italic>CDC45)<\/jats:italic> embedded in the proximal 22q11.2 deleted region is involved in craniofacial development. However, only a few studies have focused on the 22q11.2 deletion as genetic etiology in microtia patients and studied its associated external ear deformity characteristics in detail.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this research, a total of 65 patients from north China with sporadic microtia were studied. Copy number variations of <jats:italic>CDC45<\/jats:italic> were screened using AccuCopy assay. The 22q11.2 deletion harboring <jats:italic>CDC45<\/jats:italic> was identified by whole\u2010genome sequencing and targeted next\u2010generation sequencing. A parental test was carried out to determine the origin of the deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>CDC45<\/jats:italic> copy number loss was identified in two patients with microtia. A set of qPCR assays demonstrated two patients carried a typical proximal 22q11.2 deletion between the low\u2010copy repeats on chromosome 22q11.2 (LCR22A and LCR22D), encompassing <jats:italic>CDC45<\/jats:italic>. The 22q11.2 deletions were de novo in each patient. In\u2010depth auricular phenotype assessment showed these two patients have a distinct concha\u2010type ear malformation while other microtia patients have lobule\u2010type microtia among the 65\u00a0microtia patient cohort in this study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Here we present two additional Chinese microtia patients with de novo 22q11.2 proximal deletion harboring <jats:italic>CDC45<\/jats:italic> and further report these patients\u2019 distinct ear malformation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1862","type":"journal-article","created":{"date-parts":[[2021,12,31]],"date-time":"2021-12-31T13:45:07Z","timestamp":1640958307000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1985-3420","authenticated-orcid":false,"given":"Nuo","family":"Si","sequence":"first","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeya","family":"Zhang","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanchen","family":"Wang","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peipei","family":"Guo","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Pan","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyue","family":"Jiang","sequence":"additional","affiliation":[{"name":"Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical Science Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102476"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38576"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010015\u20100322\u2010x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23462"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.66"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.019"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61841"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2005.12.002"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2016.1152424"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38199"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20836"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1745\u20106150\u20107\u20107"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40653"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102016\u2010104215"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2018.03.016"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742\u20104658.2007.05900.x"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22020911"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5986507"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967\u2010020\u201002409\u20106"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.04.009"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00412\u2010014\u20100489\u20102"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100645\u20104"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1862","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T03:18:22Z","timestamp":1693192702000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,31]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/mgg3.1862"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1862","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,12,31]]},"assertion":[{"value":"2021-04-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1862"}}