Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system§

Authors

  • Rafael Denadai,

    1. School of Medical Sciences, Marília University, Marília, SP, Brazil
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  • Cassio E. Raposo-Amaral,

    Corresponding author
    1. Institute of Plastic and Craniofacial Surgery, Brazilian Society of Research and Assistance to Craniofacial Rehabilitation Hospital (SOBRAPAR), Campinas, SP, Brazil
    • Institute of Plastic and Craniofacial Surgery, Brazilian Society of Research and Assistance to Craniofacial Rehabilitation Hospital (SOBRAPAR). Av. Adolpho Lutz 100. Cidade Universitária Campinas, SP, CEP 13094-776, Brazil.
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  • Débora Bertola,

    1. Genetics Unit, Department of Pediatrics, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, SP, Brazil
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  • Chong Kim,

    1. Genetics Unit, Department of Pediatrics, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, SP, Brazil
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  • Nivaldo Alonso,

    1. Division of Plastic Surgery, Department of Surgery, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, SP, Brazil
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  • Thomas Hart,

    1. Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, Maryland
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  • Sangwoo Han,

    1. National Institute of Dental Research, National Institutes of Health (NIH), Bethesda, Maryland
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  • Rafael F. Stelini,

    1. Department of Anatomic Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil
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  • Celso L. Buzzo,

    1. Institute of Plastic and Craniofacial Surgery, Brazilian Society of Research and Assistance to Craniofacial Rehabilitation Hospital (SOBRAPAR), Campinas, SP, Brazil
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  • Cesar A. Raposo-Amaral,

    1. Institute of Plastic and Craniofacial Surgery, Brazilian Society of Research and Assistance to Craniofacial Rehabilitation Hospital (SOBRAPAR), Campinas, SP, Brazil
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  • P. Suzanne Hart

    1. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland
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  • How to Cite this Article: Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS. 2012. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet Part A 158A:732–742.

  • Rafael Denadai, Cassio E. Raposo-Amaral, and Débora Bertola contributed equally to this work.

  • §

    Sources of funding: None/Conflict of interest: None.

Abstract

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included. © 2012 Wiley Periodicals, Inc.

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