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

Bettina Härter; Francesco Benedicenti; Daniela Karall; Ekkehard Lausch; Gisela Schweigmann; Franco Stanzial; Andrea Superti-Furga; Sabine Scholl-Bürgi

doi:10.1002/mgg3.1203

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

Mol Genet Genomic Med. 2020 Jun;8(6):e1203. doi: 10.1002/mgg3.1203. Epub 2020 Mar 20.

Authors

Bettina Härter¹, Francesco Benedicenti², Daniela Karall³, Ekkehard Lausch⁴, Gisela Schweigmann⁵, Franco Stanzial², Andrea Superti-Furga⁶, Sabine Scholl-Bürgi³

Affiliations

¹ Division of Pediatric Surgery, Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Innsbruck Medical University, Innsbruck, Austria.
² Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
³ Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
⁴ Pediatric Genetics Section, Department of Pediatrics, University of Freiburg, Freiburg, Germany.
⁵ Department of Radiology, Innsbruck Medical University, Innsbruck, Austria.
⁶ Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.

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.

Keywords: ANTXR2; CMG2; Hyaline Fibromatosis Syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis.

Publication types

Case Reports

MeSH terms

Child
Female
Heterozygote
Humans
Hyaline Fibromatosis Syndrome / genetics*
Hyaline Fibromatosis Syndrome / pathology
Mutation*
Phenotype
Receptors, Peptide / genetics*

Substances

ANTXR2 protein, human
Receptors, Peptide