Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Adolescent
Adult
Aged
Aged, 80 and over
Bone Morphogenetic Protein Receptors, Type II
/ genetics
Bone Morphogenetic Proteins
/ genetics
Child
Familial Primary Pulmonary Hypertension
/ genetics
Female
Growth Differentiation Factor 2
/ genetics
Hemangioma, Capillary
/ genetics
Humans
Male
Middle Aged
Mutation
Pulmonary Veno-Occlusive Disease
/ genetics
T-Box Domain Proteins
/ genetics
Young Adult
Journal
The European respiratory journal
ISSN: 1399-3003
Titre abrégé: Eur Respir J
Pays: England
ID NLM: 8803460
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
25
04
2018
accepted:
23
11
2018
pubmed:
24
12
2018
medline:
10
10
2020
entrez:
23
12
2018
Statut:
epublish
Résumé
Heritable forms of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH) diverge by lung histopathological lesions, clinical and para-clinical presentation, their responsible genes, and mode of transmission. Since the identification of the We set up a next-generation sequencing-based targeted sequencing gene panel allowing known genes for PAH and PVOD/PCH to be analysed simultaneously Pathogenic mutations were identified in 19.5% of sporadic PAH patients (n=180), 54.5% of familial PAH patients and 13.3% of PVOD/PCH patients. Our results confirm that mutations are found in genes beyond
Sections du résumé
BACKGROUND
Heritable forms of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH) diverge by lung histopathological lesions, clinical and para-clinical presentation, their responsible genes, and mode of transmission. Since the identification of the
METHODS
We set up a next-generation sequencing-based targeted sequencing gene panel allowing known genes for PAH and PVOD/PCH to be analysed simultaneously
RESULTS
Pathogenic mutations were identified in 19.5% of sporadic PAH patients (n=180), 54.5% of familial PAH patients and 13.3% of PVOD/PCH patients.
CONCLUSION
Our results confirm that mutations are found in genes beyond
Identifiants
pubmed: 30578383
pii: 13993003.01371-2018
doi: 10.1183/13993003.01371-2018
pii:
doi:
Substances chimiques
BMP10 protein, human
0
Bone Morphogenetic Proteins
0
GDF2 protein, human
0
Growth Differentiation Factor 2
0
T-Box Domain Proteins
0
TBX4 protein, human
0
BMPR2 protein, human
EC 2.7.11.30
Bone Morphogenetic Protein Receptors, Type II
EC 2.7.11.30
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright ©ERS 2019.
Déclaration de conflit d'intérêts
Conflict of interest: M. Eyries reports personal fees from Roche Diagnostics France, during the conduct of the study. Conflict of interest: D. Montani reports personal fees from Actelion, GSK, MSD and Pfizer, outside the submitted work. Conflict of interest: S. Nadaud has nothing to disclose. Conflict of interest: B. Girerd has nothing to disclose. Conflict of interest: M. Levy has nothing to disclose. Conflict of interest: A. Bourdin reports grants, personal fees for speaking and nonfinancial support from GSK, grants, personal fees for speaking and advisory board work, and nonfinancial support from AstraZeneca and Boehringer Ingelheim, personal fees for speaking and advisory board work, and nonfinancial support from Novartis, grants from MSD, grants and personal fees for speaking from Actelion, and personal fees for speaking and nonfinancial support from Chiesi Farmaceuticals, outside the submitted work. Conflict of interest: R. Trésorier has nothing to disclose. Conflict of interest: A. Chaouat has nothing to disclose. Conflict of interest: V. Cottin reports personal fees for consultancy, lectures and travel to medical meetings from Actelion and Roche, personal fees for development of educational presentations, consultancy, lectures and travel to medical meetings from Boehringer Ingelheim, personal fees for consultancy from Bayer, personal fees for adjudication committee work from Gilead, personal fees for consultancy and travel to medical meetings from MSD, personal fees for consultancy and lectures from Novartis and Sanofi, institutional grants from Boehringer Ingelheim and Roche, personal fees for data and safety monitoring board work from Promedior and Celgene, and personal fees for consultancy and data and safety monitoring board work from Galapagos, outside the submitted work. Conflict of interest: C. Sanfiorenzo has nothing to disclose. Conflict of interest: G. Prevot has nothing to disclose. Conflict of interest: M. Reynaud-Gaubert has nothing to disclose. Conflict of interest: C. Dromer has nothing to disclose. Conflict of interest: A. Houeijeh has nothing to disclose. Conflict of interest: K. Nguyen has nothing to disclose. Conflict of interest: F. Coulet has nothing to disclose. Conflict of interest: D. Bonnet reports personal fees for advisory board work from Actelion Pharmaceuticals, Bayer Health Care and Novartis, outside the submitted work. Conflict of interest: M. Humbert reports personal fees from Actelion, Bayer, GSK, Johnson & Johnson, Merck and United Therapeutics, outside the submitted work. Conflict of interest: F. Soubrier has nothing to disclose.