{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:49:11Z","timestamp":1788306551070,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T00:00:00Z","timestamp":1626912000000},"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":["81970829"],"award-info":[{"award-number":["81970829"]}],"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":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome type 1 (SGBS1) is a rare X\u2010linked recessive disorder characterized by pre\u2010 and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation\u2010dependent probe amplification (MLPA) and real\u2010time quantitative PCR (qPCR).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The prenatal sonographic presented with increased nuchal translucency at 13\u00a0gestational weeks, and later at 21\u00a0weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A <jats:italic>de novo<\/jats:italic> 370Kb\u2010deletion covering the 5\u2032\u2010UTR and exon 1 of <jats:italic>GPC3<\/jats:italic>\u00a0gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The <jats:italic>de novo<\/jats:italic> 370Kb hemizygous deletion of 5\u2032\u2010UTR and exon 1 of <jats:italic>GPC3<\/jats:italic> results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in <jats:italic>GPC3<\/jats:italic>\u00a0gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1750","type":"journal-article","created":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T16:24:59Z","timestamp":1626971099000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal case of Simpson\u2013Golabi\u2013Behmel syndrome with a <i>de novo<\/i> 370Kb\u2010sized microdeletion of Xq26.2 compassing partial <i>GPC3<\/i> gene and review"],"prefix":"10.1002","volume":"9","author":[{"given":"Jing","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research Prevention and Treatment Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuting","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0089-7789","authenticated-orcid":false,"given":"Na","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialun","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0602-6063","authenticated-orcid":false,"given":"Ying","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research Prevention and Treatment Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Xi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research Prevention and Treatment Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengjun","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingchun","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research Prevention and Treatment Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiping","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Teng","sequence":"additional","affiliation":[{"name":"Hunan Jiahui Genetics Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxian","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6010-6139","authenticated-orcid":false,"given":"Zhuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics &amp; Hunan Key Laboratory of Animal Models for Human Diseases School of Life Sciences Central South University Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research Prevention and Treatment Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460523"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12357"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4920"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000213487"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.480"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37873"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.574857"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12725"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300130"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2013.09.044"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050170"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2718"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000490083"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31822"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.022"},{"key":"e_1_2_11_19_1","first-page":"18","volume-title":"Birth Defects Orig Artic Ser","author":"Simpson J. L.","year":"1975"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.902"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0138-0"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2319"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0339-z"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13151"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.02.009"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300060519859752"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.07.008"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000017616"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.903964"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1750","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1750","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1750","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:46:39Z","timestamp":1693331199000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1750"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,22]]},"references-count":28,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/mgg3.1750"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1750","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,22]]},"assertion":[{"value":"2021-03-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1750"}}