ArticleRespiratory research2022
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Article in Respiratory research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- ImpairedERJ open research · 2026Article
- Functional characterisation ofThe European respiratory journal · 2026Article
- Programming the beating heart with polymer catalysis: a therapeutic microenvironment revolution.Journal of nanobiotechnology · 2026Review
- Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.Scientific reports · 2026Article
- A second-hit conceptual framework for pulmonary arterial hypertension in adult congenital heart disease: genetics, hemodynamics, and treat-and-repair.Frontiers in cardiovascular medicine · 2026Review
- Advances and applications of biosensors in pulmonary hypertension.Respiratory research · 2025Review
- Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.NPJ genomic medicine · 2025Article
- Review
- SMAD5 as a novel gene for familial pulmonary arterial hypertension.Clinical science (London, England : 1979) · 2025Article
- Hemodynamic and Genetic Associations with the Risk of Idiopathic Pulmonary Arterial Hypertension Development in an Ethnic Cohort of Kazakhs.Diagnostics (Basel, Switzerland) · 2024Article
- Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.Human molecular genetics · 2024Article
- [Research progress on bioinformatics in pulmonary arterial hypertension].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Context-dependent TGFβ family signalling in cell fate regulation.Nature reviews. Molecular cell biology · 2023Review
- Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects.Journal of cardiovascular development and disease · 2023Review
- Is iron deficiency caused byPulmonary circulation · 2023Article
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.The European respiratory journal · 2023Article
- Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.Frontiers in pediatrics · 2023Article
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Authors and funding
25 authors at 9 institutions in 3 countries.
Funding
Abstract
backgroundA genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly in other PAH forms remains uncertain. We present the distribution of mutations across PAH genes identified at the largest German referral centre for genetic diagnostics in PAH over a course of > 3 years.
methodsOur PAH-specific gene diagnostics panel was used to sequence 325 consecutive PAH patients from March 2017 to October 2020. For the first year the panel contained thirteen PAH genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, KLF2, SMAD4, SMAD9 and TBX4. These were extended by the three genes ATP13A3, AQP1 and SOX17 from March 2018 onwards following the genes' discovery.
resultsA total of 79 mutations were identified in 74 patients (23%). Of the variants 51 (65%) were located in the gene BMPR2 while the other 28 variants were found in ten further PAH genes. We identified disease-causing variants in the genes AQP1, KCNK3 and SOX17 in families with at least two PAH patients. Mutations were not only detected in patients with heritable and idiopathic but also with associated PAH.
conclusionsGenetic defects were identified in 23% of the patients in a total of 11 PAH genes. This illustrates the benefit of the specific gene panel containing all known PAH genes.
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