KEGG   VARIANT: 2317v2
Entry
2317v2                      Variant                                
Name
FLNB gain-of-function mutation
Type
Gain of function
Gene
FLNB  filamin B [KO:K27392]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603381
Network
nt06548  Integrin signaling
Disease
H02048  Larsen syndrome
H02064  Atelosteogenesis type I and III
H02067  Boomerang dysplasia
Reference
  Authors
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH
  Title
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
  Journal
Nat Genet 36:405-10 (2004)
DOI:10.1038/ng1319
Reference
  Authors
Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K
  Title
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
  Journal
BMC Med Genet 17:27 (2016)
DOI:10.1186/s12881-016-0290-6
Reference
  Authors
Zhao Y, Shapiro SS, Eto M
  Title
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
  Journal
Am J Physiol Cell Physiol 310:C89-98 (2016)
DOI:10.1152/ajpcell.00274.2015
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