AUTHOR=Zhuang Jianlong , Wang Junyu , Luo Qi , Zeng Shuhong , Chen Yu’e , Jiang Yuying , Chen Xinying , Wang Yuanbai , Xie Yingjun , Wang Gaoxiong , Chen Chunnuan 

TITLE=Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.964098

DOI=10.3389/fgene.2022.964098

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.</p><p><bold>Case presentation:</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 <italic>CHRNA1</italic> gene NM_000079.4: c.[1128delG (p.Pro377Leu<italic>fs</italic>Ter10)]; [505T&gt;C (p.Trp169Arg)] in the recruited individual, and subsequent familial segregation showed that both parents transmitted their respective mutation.</p><p><bold>Conclusion:</bold> For the first time, we identified an association between the <italic>CHRNA1</italic> gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family. This finding may also enrich the mutation spectrum of the <italic>CHRNA1</italic> gene and promote the applications of WES technology in etiologic diagnosis of ultrasound anomalies in prenatal examination.</p>