简体中文

FLNA

基因产物：细丝蛋白A。

蛋白功能：与其他形成细胞骨架的蛋白质一起工作，可影响细胞的形态和迁移。

相关疾病：FG综合症（XL）[1]；X连锁心脏瓣膜发育不良（XL）[2]；先天性短肠综合征（XLR）[3]；神经性假性肠梗阻（XLR）[4]；额干骺端发育不良（XLR）[5]；脑室旁灰质异位（XLD）[6]；Melnick-Needles综合症（XLD）[7]；耳腭趾综合征Ⅰ型（XLD）[8]；耳腭趾综合征II型（XLD）[9]；终端骨发育不良（XLD）[10]。

突变数据库：ClinVar数据库。

讨论版块：点击进入FLNA基因突变讨论版块。

 

参考文献

  1. Unger, S., et al., Filamin A mutation is one cause of FG syndrome.Am J Med Genet A, 2007. 143A(16): p. 1876-9.
  2. Kyndt, F., et al., Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.Circulation, 2007. 115(1): p. 40-9.
  3. van der Werf, C.S., et al., Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.Genet Med, 2013. 15(4): p. 310-3.
  4. Gargiulo, A., et al., Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.Am J Hum Genet, 2007. 80(4): p. 751-8.
  5. Robertson, S.P., et al., Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.Am J Med Genet A, 2006. 140(16): p. 1726-36.
  6. Reinstein, E., et al., Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Eur J Hum Genet, 2013. 21(5): p. 494-502.
  7. Robertson, S.P., Filamin A: phenotypic diversity.Curr Opin Genet Dev, 2005. 15(3): p. 301-7.
  8. Hidalgo-Bravo, A., et al., A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.Am J Med Genet A, 2005. 136(2): p. 190-3.
  9. Robertson, S.P., et al., Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Nat Genet, 2003. 33(4): p. 487-91.
  10. Sun, Y., et al., Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.Am J Hum Genet, 2010. 87(1): p. 146-53.