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<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">http://doi.org/10.1086/378418</a>
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Title
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Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
Publisher
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American Journal Of Human Genetics
Date
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2003
Subject
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Female; Humans; Male; Family; Mutation; Animals; Molecular Sequence Data; Non-U.S. Gov't; Research Support; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Amino Acid; DNA Primers; Fibroma/genetics; Genetic Markers; Gingival Hypertrophy/genetics; In Situ Hybridization; Myofibromatosis/genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Alignment; Sequence Homology; Skin Neoplasms/genetics
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Hanks S; Adams S; Douglas J; Arbour L; Atherton DJ; Balci S; Bode H; Campbell ME; Feingold M; Keser G; Kleijer W; Mancini G; McGrath JA; Muntoni F; Nanda A; Teare MD; Warman M; Pope FM; Superti-Furga A; Futreal PA; Rahman N
Description
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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.
2003
Identifier
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<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">10.1086/378418</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2003
Adams S
American Journal Of Human Genetics
Amino Acid
Amino Acid Sequence
Animals
Arbour L
Atherton DJ
Backlog
Balci S
Base Sequence
Bode H
Campbell ME
DNA Primers
Douglas J
Family
Feingold M
Female
Fibroma/genetics
Futreal PA
Genetic Markers
Gingival Hypertrophy/genetics
Hanks S
Humans
In Situ Hybridization
Journal Article
Keser G
Kleijer W
Male
Mancini G
McGrath JA
Membrane Proteins/genetics
Molecular Sequence Data
Muntoni F
Mutation
Myofibromatosis/genetics
Nanda A
Non-U.S. Gov't
Pedigree
Pope FM
Rahman N
Research Support
Reverse Transcriptase Polymerase Chain Reaction
Sequence Alignment
Sequence Homology
Skin Neoplasms/genetics
Superti-Furga A
Teare MD
Warman M