Division of Pediatric Surgery, Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Innsbruck Medical University, Innsbruck, Austria.
Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
Mol Genet Genomic Med. 2020 Jun;8(6):e1203. doi: 10.1002/mgg3.1203. Epub 2020 Mar 20.
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.
透明纤维瘤病综合征是一种常染色体隐性疾病，由 ANTXR2 基因突变引起，导致跨膜蛋白炭疽毒素受体 2 功能丧失。其特征为典型的皮肤损伤、牙龈增生、关节和骨骼疾病以及全身受累。
基于 11 岁女性患者具有透明纤维瘤病综合征的典型特征和 ANTXR2 中潜在的致病性复合杂合变异体，我们讨论了透明纤维瘤病综合征的遗传和临床方面。
ANTXR2 中的新突变（c.1223T>C，p.Leu408Pro 变异）似乎使疾病的病程延长。
我们的发现增加了透明纤维瘤病综合征的表型、遗传和生化谱。
