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- Title
Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis.
- Authors
Yuefang Liu; Juan Xu; Qiaoyi Lv; Zhe Liang; Lingling Li; Qiong Pan
- Abstract
NEB mutation is associated with congenital nemalinemyopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two double maternal variants in cis c. [24871G>T;24871-10C>G] (p. [Val8291Phe;?]). They are evaluated as "likely pathogenic (LP)", "variant of uncertain of significance (VUS)", and "VUS", respectively. After further prediction, the c.24871G>T, c.24871-10C>G, and c.[24871G>T;24871-10C>G] were respectively genetically engineered into the three plasmids. Compared with their wild-type counterparts, the three plasmids all produced truncated transcripts, and also a significant proportion of the full-length transcripts, which allowed us to reclassify NEB c.24871G>T and c.24871-10C>G variants as LP. As far as we know, this is the first case carrying NEB allele-specific function of partial loss. This result helped the couple make informed reproductive choices and opt for assisted reproduction for future pregnancies. This study also increased awareness to the phenotype of prenatal nemaline myopathy and expanded the variant spectrum of NEB.
- Subjects
NEMALINE myopathy; GENETIC variation; ARTHROGRYPOSIS; REPRODUCTIVE technology; PLASMIDS
- Publication
Frontiers in Genetics, 2023, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2023.1220170