EFEMP2
MIM.604633 11q13
FBLN4
A large number of extracellular matrix proteins contain variations of the epidermal growth factor (EGF) (MIM.131530) domain as fibrillin (FBN1) (MIM.134797) or Notch (MIM.190198).
Pathology
germline mutations in
- cutis laxa (MIM.219100)
- neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa (17937443)
References
Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A. 2007 Oct 15; PMID: 17937443
Hucthagowder, V.; Sausgruber, N.; Kim, K. H.; Angle, B.; Marmorstein, L. Y.; Urban, Z. : Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am. J. Hum. Genet. 78: 1075-1080, 2006. PubMed ID : 16685658