Fetal anomalies
Gene: FN1

FN1 (fibronectin 1)
EnsemblGeneIds (GRCh38): ENSG00000115414
EnsemblGeneIds (GRCh37): ENSG00000115414
OMIM: 135600, Gene2Phenotype
FN1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

It is unclear at what stage skeletal features become apparent.

At least one individual reported with IUGR.
Created: 21 Jan 2022, 1:29 a.m. | Last Modified: 21 Jan 2022, 1:29 a.m.

Panel Version: 0.2658

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)

Publications

33605604

Created: 21 Jan 2022, 1:29 a.m.
Last Modified: 21 Jan 2022, 1:29 a.m.
Panel version: 0.2658

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

The corner fracture type of spondylometaphyseal dysplasia (SMDCF) is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers. They become larger in older children and disappear after growth has stopped. In addition, severe scoliosis has been observed in FN1-associated SMDCF, whereas developmental coxa vara is less often seen, and odontoid abnormalities have not been reported.

Variants causing Spondylometaphyseal dysplasia tend to be within the N -terminus (domains I-1 to I-5) and affects the cysteine residues involved in disulphide bonds. Lee et al. (2017) identified heterozygous mutations in 7 families with the corner fracture type of spondylometaphyseal dysplasia. Sabir et al. (2021) identified a de novo heterozygous missense mutation in a 12-year-old girl with SMDCF

NB: Glomerulopathy with fibronectin deposits 2
- Onset of proteinuria in the second to fourth decades
- Onset of end-stage renal disease 15 to 20 years after onset
Created: 18 Jan 2022, 3:46 a.m. | Last Modified: 18 Jan 2022, 3:46 a.m.

Panel Version: 0.2366

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Glomerulopathy with fibronectin deposits 2 (MIM#601894)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Jan 2022, 3:46 a.m.
Last Modified: 18 Jan 2022, 3:46 a.m.
Panel version: 0.2366

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)

OMIM

135600

Clinvar variants

Variants in FN1

Penetrance

None

Publications

Panels with this gene