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<a href="http://doi.org/10.1086/378781" target="_blank" rel="noreferrer">http://doi.org/10.1086/378781</a>
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Title
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Mutations in capillary morphogenesis gene-2 result in the allelic disorders 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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Child; Female; Humans; Male; Mutation; P.H.S.; Research Support; U.S. Gov't; Syndrome; infant; Models; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Exons; Genes; Recessive; Missense; Molecular; Chromosome Mapping; Fibroma/genetics; Genetic Markers; Focal/genetics; Glomerulosclerosis; Protein Conformation; Protein Structure; Secondary
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Dowling O; Difeo A; Ramirez MC; Tukel T; Narla G; Bonafe L; Kayserili H; Yuksel-Apak M; Paller AS; Norton K; Teebi AS; Grum-Tokars V; Martin GS; Davis GE; Glucksman MJ; Martignetti JA
Description
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Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive syndromes of unknown etiology characterized by multiple, recurring subcutaneous tumors, gingival hypertrophy, joint contractures, osteolysis, and osteoporosis. Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections, and death within the first 2 years of life. Using the previously reported chromosome 4q21 JHF disease locus as a guide for candidate-gene identification, we identified and characterized JHF and ISH disease-causing mutations in the capillary morphogenesis factor-2 gene (CMG2). Although CMG2 encodes a protein upregulated in endothelial cells during capillary formation and was recently shown to function as an anthrax-toxin receptor, its physiologic role is unclear. Two ISH family-specific truncating mutations, E220X and the 1-bp insertion P357insC that results in translation of an out-of-frame stop codon, were generated by site-directed mutagenesis and were shown to delete the CMG-2 transmembrane and/or cytosolic domains, respectively. An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
2003
Identifier
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<a href="http://doi.org/10.1086/378781" target="_blank" rel="noreferrer">10.1086/378781</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
American Journal Of Human Genetics
Amino Acid Sequence
Backlog
Base Sequence
Bonafe L
Child
Chromosome Mapping
Davis GE
Difeo A
Dowling O
Exons
Female
Fibroma/genetics
Focal/genetics
Genes
Genetic Markers
Glomerulosclerosis
Glucksman MJ
Grum-Tokars V
Humans
Infant
Journal Article
Kayserili H
Male
Martignetti JA
Martin GS
Membrane Proteins/genetics
Missense
Models
Molecular
Mutation
Narla G
Norton K
P.H.S.
Paller AS
Pedigree
Protein Conformation
Protein Structure
Ramirez MC
Recessive
Research Support
Secondary
Syndrome
Teebi AS
Tukel T
U.S. Gov't
Yuksel-Apak M