Home > Gene Browser > FBN1

FBN1

Synonyms
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
External resources
Summary
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
16
VUS
5,951
Likely benign
9,014
Benign
41,166

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on FBN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
54.1%
Abnormality of the cardiovascular system
51.4%
Abnormality of the eye
48.6%
Growth abnormality
43.2%
Abnormality of head or neck
29.7%
Abnormality of limbs
29.7%
Abnormality of the nervous system
21.6%
Abnormality of the integument
10.8%
Abnormality of the ear
8.1%
Abnormality of the genitourinary system
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of the immune system
2.7%
Abnormality of the respiratory system
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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