{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T02:21:23Z","timestamp":1772763683867,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Meckel\u2013Gruber syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation. So far, the association of <jats:italic>TXNDC15<\/jats:italic>\u2010related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian. Here, we report a fetus diagnosed with MKS at 12\u2009weeks, exhibiting typical ultrasound findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Low\u2010coverage whole\u2010genome sequencing was used to identify chromosomal abnormalities. Trio\u2010base whole exome sequencing (trio\u2010WES) was performed to investigate the potential pathogenic variants associated with MKS. Preimplantation genetic testing for monogenic disorders (PGT\u2010M) was applied to prevent the transmission of the pathogenic variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel homozygous pathogenic variant in the <jats:italic>TXNDC15<\/jats:italic> gene was identified through trio\u2010WES. The application of PGT\u2010M successfully prevented\u2009the transmission of the pathogenic variant and resulted in an ongoing pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of a <jats:italic>TXNDC15<\/jats:italic> variant in the Chinese population and the first PGT case of <jats:italic>TXNDC15<\/jats:italic>\u2010related MKS worldwide. The successful application of PGT\u2010M in this family provides a potential approach for other monogenic diseases. Our case expands the variant spectrum of <jats:italic>TXNDC15<\/jats:italic> and contributes to the molecular diagnosis and genetic counseling for MKS. This case underscores the importance of appropriate genetic testing methods and accurate genetic counseling in the diagnosis of rare monogenic diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2340","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T09:35:26Z","timestamp":1702287326000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["First preimplantation genetic testing case of Meckel syndrome with a novel homozygous <i>TXNDC15<\/i> variant in a non\u2010consanguineous Chinese family"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6835-7693","authenticated-orcid":false,"given":"Huiling","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3638-9228","authenticated-orcid":false,"given":"Jiajie","family":"Pu","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics 01life Institute  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningjie","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengzhong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanlin","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jilong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuemei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Shenzhen Maternity &amp; Child Healthcare Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.174"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010018\u20100054\u20107"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815\u2010019\u201001588\u20106"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00244"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100517\u20105"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13623"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.614"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059\u2010016\u20101099\u20105"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1513\/pats.201103\u2010025SD"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2018.00008"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010020\u20100804\u20100"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s43032\u2010022\u201000898\u2010y"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2340","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:27:46Z","timestamp":1706531266000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,11]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2340"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2340","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,11]]},"assertion":[{"value":"2023-09-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2340"}}