{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T08:01:56Z","timestamp":1780387316466,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T00:00:00Z","timestamp":1605830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770002"],"award-info":[{"award-number":["81770002"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900002"],"award-info":[{"award-number":["81900002"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470445"],"award-info":[{"award-number":["81470445"]}],"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;amp; Gen Med"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous\/compound heterozygous variants in the aspartate\/asparagine\u2010\u03b2\u2010hydroxylase (<jats:italic>ASPH<\/jats:italic>) gene, which hydroxylates the aspartic acid and asparagine in epidermal growth factor\u2010like domains of various proteins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome and Sanger sequencing were used to identify the disease\u2010causing gene of the patient in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ASPH protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Through exome and Sanger sequencing, we identified a novel homozygous <jats:italic>ASPH<\/jats:italic> variant (NM_004318.4:c.1910del\/NP_004309.2: p.(Asn637MetfsTer15)) in the patient, which may lead to blockage of the ASPH function through truncating the AspH oxygenase domain of the ASPH protein and\/or nonsense\u2010mediated decay of the <jats:italic>ASPH<\/jats:italic> transcript. This is the first report of Traboulsi syndrome in a Chinese patient who was combined with ventricular septal defect, lung bullae, and recurrent spontaneous pneumothorax.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results revealed the clinical characteristics of the first Chinese patient with Traboulsi syndrome. Additionally, our study expands the mutational spectrum of Traboulsi syndrome and provides information for clinical genetic counseling to this family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1553","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T06:39:24Z","timestamp":1605940764000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Whole\u2010exome sequencing identified a novel homozygous <i>ASPH<\/i> frameshift variant causing Traboulsi syndrome in a Chinese family"],"prefix":"10.1002","volume":"9","author":[{"given":"Cheng","family":"Lei","sequence":"first","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine the Second Xiangya Hospital Central South University Changsha China"},{"name":"Research Unit of Respiratory Disease Central South University Changsha China"},{"name":"Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine the Second Xiangya Hospital Central South University Changsha China"},{"name":"Research Unit of Respiratory Disease Central South University Changsha China"},{"name":"Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuizi","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine the Second Xiangya Hospital Central South University Changsha China"},{"name":"Research Unit of Respiratory Disease Central South University Changsha China"},{"name":"Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyan","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Pathology the Second Xiangya Hospital Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine the Second Xiangya Hospital Central South University Changsha China"},{"name":"Research Unit of Respiratory Disease Central South University Changsha China"},{"name":"Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiping","family":"Tan","sequence":"additional","affiliation":[{"name":"Clinical Center for Gene Diagnosis and Therapy Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9501-651X","authenticated-orcid":false,"given":"Hong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine the Second Xiangya Hospital Central South University Changsha China"},{"name":"Research Unit of Respiratory Disease Central South University Changsha China"},{"name":"Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40508"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2013.274"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2019.1605390"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110389200"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096\u20108628(2001)9999:9999<:AID\u2010AJMG1156>3.0.CO;2\u2010V"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000287"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2010.07.002"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000350951"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R115.662627"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1116"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.002"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201012711\u20107"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_1249_19"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819509057858"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2018.1561904"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00219214"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015080962"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1553","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1553","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1553","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T05:08:15Z","timestamp":1693199295000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,20]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/mgg3.1553"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1553","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,20]]},"assertion":[{"value":"2020-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1553"}}