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

Details

Ressource 1Download: 32196989_BIB_408DF9868F37.pdf (715.39 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_408DF9868F37
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Journal
Molecular genetics & genomic medicine
Author(s)
Härter B., Benedicenti F., Karall D., Lausch E., Schweigmann G., Stanzial F., Superti-Furga A., Scholl-Bürgi S.
ISSN
2324-9269 (Electronic)
ISSN-L
2324-9269
Publication state
Published
Issued date
06/2020
Peer-reviewed
Oui
Volume
8
Number
6
Pages
e1203
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.
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.
The novel mutation in ANTXR2 (c.1223T>C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.
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, ANTXR2, CMG2
Pubmed
Web of science
Open Access
Yes
Create date
01/04/2020 19:56
Last modification date
15/01/2021 7:09
Usage data