EFEMP2
MIM.604633 11q13
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#