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

被引：15

作者：

Haerter, Bettina ^{[1
]}

Benedicenti, Francesco ^{[2
,3
]}

Karall, Daniela ^{[4
]}

Lausch, Ekkehard ^{[5
]}

Schweigmann, Gisela ^{[6
]}

Stanzial, Franco ^{[2
,3
]}

Superti-Furga, Andrea ^{[7
]}

Scholl-Buergi, Sabine ^{[4
]}

机构：

[1] Innsbruck Med Univ, Div Pediat Surg, Dept Visceral Transplant & Thorac Surg, Ctr Operat Med, Anichstr 35, A-6020 Innsbruck, Austria

[2] Reg Hosp Bolzano, Clin Genet Serv, Bolzano, Italy

[3] Reg Hosp Bolzano, South Tyrol Coordinat Ctr Rare Dis, Dept Pediat, Bolzano, Italy

[4] Innsbruck Med Univ, Dept Pediat 1, Innsbruck, Austria

[5] Univ Freiburg, Pediat Genet Sect, Dept Pediat, Freiburg, Germany

[6] Innsbruck Med Univ, Dept Radiol, Innsbruck, Austria

[7] Univ Lausanne, Lausanne Univ Hosp, Div Genet Med, Lausanne, Switzerland

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2020年 / 8卷 / 06期

关键词：

ANTXR2; CMG2; Hyaline Fibromatosis Syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis; INFANTILE SYSTEMIC HYALINOSIS;

D O I：

10.1002/mgg3.1203

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：6

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