Gene Information
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
FBN1 variants are associated with 11 diseases including familial thoracic aortic aneurysm and aortic dissection and Shprintzen-Goldberg syndrome and 9 others, with 446 documented clinical phenotypes.
The FBN1 gene is associated with 11 medical conditions, including:
familial thoracic aortic aneurysm and aortic dissection
MONDO:0019625
Shprintzen-Goldberg syndrome
MONDO:0008426
progeroid and marfanoid aspect-lipodystrophy syndrome
MONDO:0014831
Weill-Marchesani syndrome 2, dominant
MONDO:0012013
Marfan syndrome
MONDO:0007947
geleophysic dysplasia
MONDO:0000127
Acromicric dysplasia
MONDO:0007055
Weill-Marchesani syndrome
MONDO:0018096
stiff skin syndrome
MONDO:0008492
neonatal Marfan syndrome
MONDO:0017309
isolated ectopia lentis
MONDO:0015998
Research has identified 446 phenotypic features associated with FBN1 variants:
Ptosis
HP:0000508
Bruising susceptibility
HP:0000978
Prominent forehead
HP:0011220
Joint stiffness
HP:0001387
Knee flexion contracture
HP:0006380
Spondylolisthesis
HP:0003302
Lens luxation
HP:0012019
Prominent forehead
HP:0011220
Pulmonary artery dilatation
HP:0004927
Hypertelorism
HP:0000316
Camptodactyly of toe
HP:0001836
Severe short stature
HP:0003510
Mitral valve prolapse
HP:0001634
Narrow palate
HP:0000189
Platyspondyly
HP:0000926
ClinVar contains 10 variants associated with FBN1. Below are some notable variants:
NM_000138.5(FBN1):c.7631C>A (p.Thr2544Asn)
Uncertain significanceVCV004528264
Review: criteria provided, single submitter
NM_000138.5(FBN1):c.5224+5G>C
Uncertain significanceVCV004527341
Review: criteria provided, single submitter
NM_000138.5(FBN1):c.358A>G (p.Asn120Asp)
Uncertain significanceVCV004526958
Review: criteria provided, single submitter
NM_000138.5(FBN1):c.5556del (p.Glu1852fs)
Likely pathogenicVCV004526733
Review: criteria provided, single submitter
NM_000138.5(FBN1):c.3839-3C>G
Uncertain significanceVCV004526479
Review: criteria provided, single submitter
There are 1,075 publications about FBN1 indexed in PubMed. Below are some recent papers:
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y, Li X, Chen Y
PMID: 41259386
•
2025
•
PLoS One
Associations between asprosin, insulin resistance, and oxidative stress in adults with obesity.
Kościuszko M, Buczyńska A, Duraj E
PMID: 41258265
•
2025 Nov 19
•
Sci Rep
A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene.
Irshaid M, Al Mansoori G, Sulaiman M
PMID: 41256009
•
2025
•
Front Mol Biosci
[Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement].
Kogure K, Nunokawa M, Inaba Y
PMID: 41253327
•
2025 Oct
•
Kyobu Geka
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ, Castillo-Espinola AM, Medina-Escobedo CE
PMID: 41247545
•
2025 Nov 17
•
Pediatr Cardiol
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Last updated: 11/20/2025