NDLI: Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Content Provider	PubMed Central
Author	Hanks, Sandra Adams, Sarah Douglas, Jenny Arbour, Laura Atherton, David J. Balci, Sevim Bode, Harald Campbell, Mary E. Feingold, Murray Keser, Gökhan Kleijer, Wim Mancini, Grazia Mcgrath, John A. Francesco, Muntoni Nanda, Arti Teare, M. Dawn Warman, Matthew Pope, F. Michael Andrea, Superti-furga Andrew, Futreal P. Rahman, Nazneen
Copyright Year	2003
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.
Related Links	http://dx.doi.org/10.1086/378418
Ending Page	800
Page Count	10
Starting Page	791
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	4
Volume Number	73
Language	English
Publisher	The American Society of Human Genetics
Publisher Date	2003-10-01
Access Restriction	Open
Rights Holder	The American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

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

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

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Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

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Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis.

The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

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Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

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Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

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