KEGG   VARIANT: 2335v1
Entry
2335v1                      Variant                                
Name
FN1 mutation
Type
Loss of function
Gene
FN1  fibronectin 1 [KO:K05717]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 135600
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01260  Glomerulopathy with fibronectin deposits
H02185  Spondylometaphyseal dysplasia
Reference
  Authors
Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M
  Title
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
  Journal
Proc Natl Acad Sci U S A 105:2538-43 (2008)
DOI:10.1073/pnas.0707730105
Reference
  Authors
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
  Title
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
  Journal
Am J Hum Genet 101:815-823 (2017)
DOI:10.1016/j.ajhg.2017.09.019
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