A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
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 w...
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Pulmonary Medicine |
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| Online Access: | https://doi.org/10.1186/s12890-022-02256-9 |
| _version_ | 1797985418414653440 |
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| author | Chun Zhang Qiang Du Sha Wang Ruifeng Zhang |
| author_facet | Chun Zhang Qiang Du Sha Wang Ruifeng Zhang |
| author_sort | Chun Zhang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T07:17:45Z |
| format | Article |
| id | doaj.art-64f1f9d4819246e0b6f68ae064bf7374 |
| institution | Directory Open Access Journal |
| issn | 1471-2466 |
| language | English |
| last_indexed | 2024-04-11T07:17:45Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pulmonary Medicine |
| spelling | doaj.art-64f1f9d4819246e0b6f68ae064bf73742022-12-22T04:37:52ZengBMCBMC Pulmonary Medicine1471-24662022-11-012211610.1186/s12890-022-02256-9A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive diseaseChun Zhang0Qiang Du1Sha Wang2Ruifeng Zhang3Department of Respiratory Medicine, Zhongda Hospital of Southeast UniversityDepartment of Respiratory Medicine, Zhongda Hospital of Southeast UniversityDIAN DiagnosticsDepartment of Respiratory Medicine, Zhongda Hospital of Southeast UniversityAbstract 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.https://doi.org/10.1186/s12890-022-02256-9PVODEIF2AK4Compound heterozygous mutationWhole-exome sequencing |
| spellingShingle | Chun Zhang Qiang Du Sha Wang Ruifeng Zhang A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease BMC Pulmonary Medicine PVOD EIF2AK4 Compound heterozygous mutation Whole-exome sequencing |
| title | A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease |
| title_full | A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease |
| title_fullStr | A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease |
| title_full_unstemmed | A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease |
| title_short | A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease |
| title_sort | rare compound heterozygous eif2ak4 mutation in pulmonary veno occlusive disease |
| topic | PVOD EIF2AK4 Compound heterozygous mutation Whole-exome sequencing |
| url | https://doi.org/10.1186/s12890-022-02256-9 |
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