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Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> We herein report a Chinese case with a history of three adverse pregnancies demonstrating the same ultrasonic phenotypes, including increased nuchal translucency, edema, fetal neck cystoma, reduced movement, joint contractures, and other congenital features. Whole-exome sequencing (WES) revealed novel compound heterozygous variants in the <jats:italic>CHRNA1<\/jats:italic> gene NM_000079.4: c.[1128delG (p.Pro377Leu<jats:italic>fs<\/jats:italic>Ter10)]; [505T&amp;gt;C (p.Trp169Arg)] in the recruited individual, and subsequent familial segregation showed that both parents transmitted their respective mutation.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> For the first time, we identified an association between the <jats:italic>CHRNA1<\/jats:italic> gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family. This finding may also enrich the mutation spectrum of the <jats:italic>CHRNA1<\/jats:italic> gene and promote the applications of WES technology in etiologic diagnosis of ultrasound anomalies in prenatal examination.<\/jats:p>","DOI":"10.3389\/fgene.2022.964098","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T10:18:10Z","timestamp":1661509090000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junyu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuhong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2019e","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinying","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanbai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingjun","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaoxiong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.4103\/2156-7514.103055","article-title":"Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensional ultrasonography","volume":"2","author":"Barros","year":"2012","journal-title":"J. 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