KEGG   VARIANT: 2316v1
Entry
2316v1                      Variant                                
Name
FLNA mutation
Type
Loss of function
Gene
FLNA  filamin A [KO:K04437]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300017
Network
nt06548  Integrin signaling
Disease
H00270  Periventricular nodular heterotopia
H00894  FG syndrome
H01276  Chronic idiopathic intestinal pseudo-obstruction
H02229  Terminal osseous dysplasia
H02230  X-linked cardiac valvular dysplasia
Reference
  Authors
Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ
  Title
Filamin A mutation is one cause of FG syndrome.
  Journal
Am J Med Genet A 143A:1876-9 (2007)
DOI:10.1002/ajmg.a.31751
Reference
  Authors
Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R
  Title
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
  Journal
Neurology 58:916-21 (2002)
DOI:10.1212/wnl.58.6.916
Reference
  Authors
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
  Title
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
  Journal
Am J Hum Genet 80:751-8 (2007)
DOI:10.1086/513321
Reference
  Authors
Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
  Title
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
  Journal
Circulation 115:40-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.622621
Reference
  Authors
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH
  Title
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
  Journal
Am J Hum Genet 87:146-53 (2010)
DOI:10.1016/j.ajhg.2010.06.008
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