A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.

doi:10.1038/s41431-023-01455-0

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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.

European journal of human genetics : EJHG - 1 Jan 2024

Klemenzdottir Elin Ola, Arnadottir Gudny Anna, Jensson Brynjar Orn, Jonasdottir Adalbjorg, Katrinardottir Hildigunnur, Fridriksdottir Run, Jonasdottir Aslaug, Sigurdsson Asgeir, Gudjonsson Sigurjon Axel, Jonsson Jon Johannes, Stefansdottir Vigdis, Danielsen Ragnar, Palsdottir Astridur, Jonsson Hakon, Helgason Agnar, Magnusson Olafur Thor, Thorsteinsdottir Unnur, Bjornsson Hans Tomas, Stefansson Kari, Sulem Patrick

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland we collected information from all living individuals with a clinical diagnosis of MFS in Iceland (n = 32) and performed whole-genome sequencing of those who did not...

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PMID: 37684520
DOI: 10.1038/s41431-023-01455-0
PMCID: PMC10772070

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FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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