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Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel, Lieke M; Jansen, Samara M A; Alsters, Suzanne I M; Post, Marco C; van der Smagt, Jasper J; Handoko-De Man, Frances S; van Tintelen, J Peter; Gille, Hans; Christiaans, Imke; Vonk Noordegraaf, Anton; Bogaard, HarmJan; Houweling, Arjan C.
Afiliación
  • van den Heuvel LM; Department of Clinical Genetics, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
  • Jansen SMA; Netherlands Heart Institute, 3511EP Utrecht, The Netherlands.
  • Alsters SIM; Department of Genetics, University Medical Centre Utrecht, Utrecht University, 3584CX Utrecht, The Netherlands.
  • Post MC; Department of Lung Disease, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
  • van der Smagt JJ; Department of Clinical Genetics, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
  • Handoko-De Man FS; Department of Cardiology, St. Antonius hospital, 3435CM Nieuwegein, The Netherlands.
  • van Tintelen JP; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, 3584CX Utrecht, The Netherlands.
  • Gille H; Department of Genetics, University Medical Centre Utrecht, Utrecht University, 3584CX Utrecht, The Netherlands.
  • Christiaans I; Department of Lung Disease, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
  • Vonk Noordegraaf A; Department of Clinical Genetics, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
  • Bogaard H; Department of Genetics, University Medical Centre Utrecht, Utrecht University, 3584CX Utrecht, The Netherlands.
  • Houweling AC; Department of Clinical Genetics, Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands.
Genes (Basel) ; 11(10)2020 10 13.
Article en En | MEDLINE | ID: mdl-33066286
Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant was detected in 22 (31%) of them. After the identification of additional PAH associated genes, a next generation sequencing (NGS) panel consisting of 19 genes was developed in 2018. Additional genetic testing was offered to the 48 BMPR2 and SMAD9 negative patients, out of which 28 opted for NGS analysis. In addition, this gene panel was analyzed in 56 newly identified idiopathic (IPAH) or pulmonary veno occlusive disease (PVOD) patients. In these 84 patients, NGS panel testing revealed LP/P variants in BMPR2 (N = 4), GDF2 (N = 2), EIF2AK4 (N = 1), and TBX4 (N = 3). Furthermore, 134 relatives of 32 probands with a LP/P variant were tested, yielding 41 carriers. NGS panel screening offered to IPAH/PVOD patients led to the identification of LP/P variants in GDF2, EIF2AK4, and TBX4 in six additional patients. The identification of LP/P variants in patients allows for screening of at-risk relatives, enabling the early identification of PAH.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Veno-Oclusiva Pulmonar / Proteínas Serina-Treonina Quinasas / Predisposición Genética a la Enfermedad / Proteínas de Dominio T Box / Factor 2 de Diferenciación de Crecimiento / Hipertensión Arterial Pulmonar / Mutación Tipo de estudio: Etiology_studies / Evaluation_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Veno-Oclusiva Pulmonar / Proteínas Serina-Treonina Quinasas / Predisposición Genética a la Enfermedad / Proteínas de Dominio T Box / Factor 2 de Diferenciación de Crecimiento / Hipertensión Arterial Pulmonar / Mutación Tipo de estudio: Etiology_studies / Evaluation_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza