Abstract

Background

Pulmonary veno-occlusive disease (PVOD) is a rare, progressive, and oft-fatal condition of pulmonary arterial hypertension that is typically difficult to diagnose and treat. However, with the development of next-generation sequencing technology, an increasing number of patients with PVOD are being diagnosed.

Methods

Initially, we used whole exome sequencing (WES) to identify the proband as a rare compound heterozygous mutation of EIF2AK4 in PVOD. Subsequently, the parents of patient underwent EIF2AK4 screening by Sanger sequencing.

Results

In this study, we describe the family tree of a patient with PVOD with a rare compound heterozygous EIF2AK4 mutation. Moreover, we identified a new EIF2AK4 mutation, c.2236_2237insAAGTCCTTCT, in exon 12 of the proband and his mother. This frameshift mutation led to premature termination of the coding protein sequence and widespread loss of protein function, which promoted the development of PVOD.

Conclusions

Our results expand our understanding of the EIF2AK4 mutation spectrum in patients with PVOD, as well as highlight the clinical applicability of WES.

Details

Title
A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
Author
Zhang, Chun; Du, Qiang; Wang, Sha; Zhang, Ruifeng
Pages
1-6
Section
Research article
Publication year
2022
Publication date
2022
Publisher
BioMed Central
e-ISSN
14712466
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2755771848
Copyright
© 2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.