{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T14:15:06Z","timestamp":1766067306162,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T00:00:00Z","timestamp":1615593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A heterozygous natriuretic peptide receptor 2 (<jats:italic>NPR2<\/jats:italic>) gene c.2455C&gt;T mutation was identified as a cause of familial idiopathic short stature (ISS). Only two cases with this mutation were reported previously, and the probands with ISS had no organ system defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing (NGS) was performed on an amniotic fluid DNA sample of a fetus with shortened long bones and a small ventricular septal defect detected by an obstetric ultrasound examination. The pathogenic variant of the fetus was confirmed by Sanger sequencing. Sanger sequencing, G\u2010banded, and C\u2010banded karyotyping of the fetus's parents were subsequently performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A de novo <jats:italic>NPR2<\/jats:italic> gene c.2455C&gt;T, p.(Arg819Cys) mutation was identified in the fetus. No microdeletion or microduplication was identified in the fetus by copy number variation sequencing with a maximum resolution of 400\u00a0kb. The two previous miscarriages experienced by the fetus's parents were interpreted as a result of chromosomal aberrations, including a maternal fragile site at 16q22.1 and a rare paternal variant involving in a large G\u2010band\u2010positive and C\u2010band\u2010positive block of paracentric heterochromatin of chromosome 4p.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report provides clinical signs of a de novo heterozygous <jats:italic>NPR2<\/jats:italic> gene c.2455C&gt;T mutation in the fetus and shows paternal chromosomal aberrations causing repeated pregnancy loss.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1637","type":"journal-article","created":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T18:18:15Z","timestamp":1615659495000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["De novo c.2455C&gt;T mutation of <i>NPR2<\/i> gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3803-9472","authenticated-orcid":false,"given":"Thi Minh Thi","family":"Ha","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Hue University of Medicine and Pharmacy Hue University Hue Vietnam"},{"name":"Center of Prenatal and Neonatal Screening\u2010Diagnosis Hue University of Medicine and Pharmacy Hospital Hue Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tran Thao Nguyen","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hue University of Medicine and Pharmacy Hue University Hue Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Mai Ngan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hue University of Medicine and Pharmacy Hue University Hue Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huu Nguyen","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Gene Solutions Joint Stock Company Ho Chi Minh city Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447\u20100756.2012.01850.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/422013"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.117.311194"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.6.470"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286668"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00304562"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015\u20101612"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1146"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2018.07.004"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0510019103"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000357411"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/isbn.978-3-318-05979-3"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278788"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61192"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013\u20102142"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22773"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1637","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1637","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T10:53:13Z","timestamp":1708426393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,13]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1002\/mgg3.1637"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1637","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,3,13]]},"assertion":[{"value":"2020-06-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1637"}}