Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Details

Serval ID
serval:BIB_0BA512EB6CD5
Type
Article: article from journal or magazin.
Collection
Publications
Title
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Journal
American Journal of Human Genetics
Author(s)
Hanks S., Adams S., Douglas J., Arbour L., Atherton D.J., Balci S., Bode H., Campbell M.E., Feingold M., Keser G., Kleijer W., Mancini G., McGrath J.A., Muntoni F., Nanda A., Teare M.D., Warman M., Pope F.M., Superti-Furga A., Futreal P.A., Rahman N.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Publication state
Published
Issued date
2003
Volume
73
Number
4
Pages
791-800
Language
english
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.
Keywords
Amino Acid Sequence, Animals, Base Sequence, DNA Primers, Family, Female, Fibroma/genetics, Genetic Markers, Gingival Hypertrophy/genetics, Humans, In Situ Hybridization, Male, Membrane Proteins/genetics, Molecular Sequence Data, Mutation, Myofibromatosis/genetics, Pedigree, Reverse Transcriptase Polymerase Chain Reaction, Sequence Alignment, Sequence Homology, Amino Acid, Skin Neoplasms/genetics
Pubmed
Web of science
Open Access
Yes
Create date
14/03/2011 17:09
Last modification date
08/05/2019 14:16
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