Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
- Härter B Division of Pediatric Surgery, Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Innsbruck Medical University, Innsbruck, Austria.
- Benedicenti F Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
- Karall D Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
- Lausch E Pediatric Genetics Section, Department of Pediatrics, University of Freiburg, Freiburg, Germany.
- Schweigmann G Department of Radiology, Innsbruck Medical University, Innsbruck, Austria.
- Stanzial F Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
- Superti-Furga A Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
- Scholl-Bürgi S Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
- 2020-03-21
Published in:
- Molecular genetics & genomic medicine. - 2020
ANTXR2
CMG2
Hyaline Fibromatosis Syndrome
infantile systemic hyalinosis
juvenile hyaline fibromatosis
English
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.
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.
- Language
-
- English
- Open access status
- gold
- Identifiers
-
- DOI 10.1002/mgg3.1203
- PMID 32196989
- Persistent URL
- https://sonar.ch/global/documents/161563
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