Eichstaedt, Christina A., Sassmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota ORCID: 0000-0002-7743-2472, Gall, Henning, Sommer, Natascha ORCID: 0000-0002-8915-7762, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Juergen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin ORCID: 0000-0003-2466-1420, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin and Gruenig, Ekkehard (2022). Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension. Respir. Res., 23 (1). LONDON: BMC. ISSN 1465-993X

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Abstract

Background A 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. Methods Our 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. Results A 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. Conclusions Genetic 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Eichstaedt, Christina A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sassmannshausen, ZoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shaukat, MemoonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cao, DingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Xanthouli, PanagiotaUNSPECIFIEDorcid.org/0000-0002-7743-2472UNSPECIFIED
Gall, HenningUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sommer, NataschaUNSPECIFIEDorcid.org/0000-0002-8915-7762UNSPECIFIED
Ghofrani, Hossein-ArdeschirUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seyfarth, Hans-JuergenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, MarianneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Halank, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleymann, JaninaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benjamin, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harutyunova, SatenikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Egenlauf, BenjaminUNSPECIFIEDorcid.org/0000-0003-2466-1420UNSPECIFIED
Milger, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosenkranz, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ewert, RalfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klose, HansUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoeper, Marius M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olsson, Karen M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lankeit, MareikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lange, Tobias J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hinderhofer, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruenig, EkkehardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-695434
DOI: 10.1186/s12931-022-01987-x
Journal or Publication Title: Respir. Res.
Volume: 23
Number: 1
Date: 2022
Publisher: BMC
Place of Publication: LONDON
ISSN: 1465-993X
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PRESSURE RESPONSE; BETA-RECEPTOR; MUTATIONS; IDENTIFICATIONMultiple languages
Respiratory SystemMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69543

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