Home > A. Molecular pathology > FLNA

FLNA

Tuesday 22 March 2005

Pathology

- germline mutations in

  • otopalatodigital syndrome type II (OPD2) (MIM.304120)
  • X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement (MIM.300048)
  • frontometaphyseal dysplasia (MIM.305620)
  • Melnick-Needles syndrome (MIM.309350)
  • cortical periventricular heterotopia (MIM.300049)
    • with Ehlers-Danlos syndrome

See also

- FLNs

References

- Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007 Apr;80(4):751-8. PMID: #17357080#

- Robertson SP. Filamin A: phenotypic diversity. Curr Opin Genet Dev. 2005 Jun;15(3):301-7. PMID: #15917206#

- Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25;64(2):254-62. PMID: #15668422#

- Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions. Clin Dysmorphol. 2004 Jul;13(3):123-31. PMID: #15194946#

- Nagano T, Morikubo S, Sato M. Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration. J Neurosci. 2004 Oct 27;24(43):9648-57. PMID: #15509752#