Hanks, S and Adams, S and Douglas, J and Arbour, L and Atherton, DJ and Balci, S and Bode, H and Campbell, ME and Feingold, M and Keser, G and Kleijer, W and Mancini, G and McGrath, JA and Muntoni, F and Nanda, A and Teare, MD and Warman, M and Pope, FM and Superti-Furga, A and Futreal, PA and Rahman, N (2003) Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. AM J HUM GENET , 73 (4) 791 - 800.
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Abstract
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.
| Type: | Article |
|---|---|
| Title: | Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis |
| Keywords: | ULTRASTRUCTURAL FINDINGS, SKIN FIBROBLASTS, ANTHRAX TOXIN, COLLAGEN, RECEPTOR |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre |
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