Zhuang Jianlong, Wang Junyu, Luo Qi, Zeng Shuhong, Chen Yu'e, Jiang Yuying, Chen Xinying, Wang Yuanbai, Xie Yingjun, Wang Gaoxiong, Chen Chunnuan
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.
Department of Public Health for Women and Children, Quanzhou Women's and Children's Hospital, Quanzhou, China.
Front Genet. 2022 Aug 26;13:964098. doi: 10.3389/fgene.2022.964098. eCollection 2022.
Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures. 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 gene NM_000079.4: c.[1128delG (p.Pro377LeuTer10)]; [505T>C (p.Trp169Arg)] in the recruited individual, and subsequent familial segregation showed that both parents transmitted their respective mutation. For the first time, we identified an association between the gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family. This finding may also enrich the mutation spectrum of the gene and promote the applications of WES technology in etiologic diagnosis of ultrasound anomalies in prenatal examination.
致死性多发性翼状胬肉综合征（LMPS）是一种罕见的常染色体隐性遗传性疾病，其典型特征为宫内生长迟缓、多发性翼状胬肉和屈曲挛缩。我们在此报告一例有三次不良妊娠史的中国病例，其表现出相同的超声表型，包括颈项透明层增厚、水肿、胎儿颈部囊肿、胎动减少、关节挛缩以及其他先天性特征。全外显子组测序（WES）在招募个体的NM_000079.4基因中发现了新的复合杂合变异：c.[1128delG（p.Pro377LeuTer10）]；[505T>C（p.Trp169Arg）]，随后的家系分离分析表明父母双方都传递了各自的突变。我们首次在中国家族中确定了该基因与复发性致死性多发性翼状胬肉综合征（LMPS）之间的关联。这一发现可能也丰富了该基因的突变谱，并促进WES技术在产前检查中超声异常病因诊断中的应用。
