Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. The pathogenicity of genetic variants previously associated with left ventricular non-compaction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. MT-CYB mutations in hypertrophic cardiomyopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Inherited and environmental factors associated with sudden cardiac death. (PhD).

    Publikation: Bog/antologi/afhandling/rapportPh.d.-afhandlingForskning

  2. Exercise cardiovascular magnetic resonance imaging allows differentiation of low-risk pulmonary arterial hypertension

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Noncardiac genetic predisposition in sudden infant death syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: We aimed to provide a set of previously reported PAH-associated missense and nonsense variants, and evaluate the pathogenicity of those variants.

METHODS: The Human Gene Mutation Database, PubMed, and Google Scholar were searched for previously reported PAH-associated genes and variants. Thereafter, both exome sequencing project and exome aggregation consortium as background population searched for previously reported PAH-associated missense and nonsense variants. The pathogenicity of previously reported PAH-associated missense variants evaluated by using four in silico prediction tools.

RESULTS: In total, 14 PAH-associated genes and 180 missense and nonsense variants were gathered. The BMPR2, the most frequent reported gene, encompasses 135 of 180 missense and nonsense variants. The exome sequencing project comprised 9, and the exome aggregation consortium counted 25 of 180 PAH-associated missense and nonsense variants. The TOPBP1 and ENG genes are unlikely to be the monogenic cause of PAH pathogenesis based on allele frequency in background population and prediction analysis.

CONCLUSION: This is the first evaluation of previously reported PAH-associated missense and nonsense variants. The BMPR2 identified as the major gene out of 14 PAH-associated genes. Based on findings, the ENG and TOPBP1 gene are not likely to be the monogenic cause of PAH.

OriginalsprogEngelsk
TidsskriftMolecular Genetics & Genomic Medicine
Vol/bind6
Udgave nummer5
Sider (fra-til)835-844
Antal sider10
ISSN2324-9269
DOI
StatusUdgivet - sep. 2018

ID: 56232436