Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

Abstract

BACKGROUND:

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement.

METHODS:

Based on the case of an 11-year-old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote variants in ANTXR2 we discuss the genetic and clinical aspects of hyaline fibromatosis syndrome.

RESULTS:

The novel mutation in ANTXR2 (c.1223T>C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.

CONCLUSION:

Our findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.

• Authors: Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti-Furga, Sabine Scholl-Bürgi
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 8 Issue 6 Pg. e1203 (06 2020) ISSN: 2324-9269 [Electronic] United States
• PMID: 32196989 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Chemical References

• ANTXR2 protein, human
• Receptors, Peptide

Topics

• Child
• Female
• Heterozygote
• Humans
• Hyalinosis, Systemic (genetics, pathology)
• Mutation
• Phenotype
• Receptors, Peptide (genetics)