Bibliographic Details
| Title: |
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report |
| Authors: |
Jianlong Zhuang, Junyu Wang, Qi Luo, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Xinying Chen, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen |
| Source: |
Frontiers in Genetics, Vol 13 (2022) |
| Publisher Information: |
Frontiers Media S.A., 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Genetics |
| Subject Terms: |
whole-exome sequencing, chromosomal microarray analysis, CHRNA1, lethal multiple pterygium syndrome, stillbirth, Genetics, QH426-470 |
| More Details: |
Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.Case presentation: 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 CHRNA1 gene NM_000079.4: c.[1128delG (p.Pro377LeufsTer10)]; [505T>C (p.Trp169Arg)] in the recruited individual, and subsequent familial segregation showed that both parents transmitted their respective mutation.Conclusion: For the first time, we identified an association between the CHRNA1 gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family. This finding may also enrich the mutation spectrum of the CHRNA1 gene and promote the applications of WES technology in etiologic diagnosis of ultrasound anomalies in prenatal examination. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1664-8021 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fgene.2022.964098/full; https://doaj.org/toc/1664-8021 |
| DOI: |
10.3389/fgene.2022.964098 |
| Access URL: |
https://doaj.org/article/e9cae234d29e40c8997e66522f2844e5 |
| Accession Number: |
edsdoj.9cae234d29e40c8997e66522f2844e5 |
| Database: |
Directory of Open Access Journals |
