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

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.

SUBMITTER: Harter B

PROVIDER: S-EPMC7284039 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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

Härter Bettina B Benedicenti Francesco F Karall Daniela D Lausch Ekkehard E Schweigmann Gisela G Stanzial Franco F Superti-Furga Andrea A Scholl-Bürgi Sabine S

Molecular genetics & genomic medicine 20200320 6

<h4>Background</h4>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.<h4>Methods</h4>Based on the case of an 11-year-old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote var ...[more]

PMID: 32196989

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Hyaline fibromatosis syndrome: cutaneous manifestations.

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Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

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The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

Project description:BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene. CASE PRESENTATION:In this report, we describe four cases of HFS from consanguineous backgrounds. Genetic analysis identified a novel homozygous frameshift deletion c.969del (p.Ile323Metfs*14) in one case, the previously reported mutation c.134 T?>?C (p.Leu45Pro) in another case, and the recurrent homozygous frameshift mutation c.1073dup (p.Ala359Cysfs*13) in two cases. The epidemiology of this latter mutation is of particular interest, as it is a candidate for inhibition of nonsense-mediated mRNA decay. Haplotype analysis was performed to determine the origin of this mutation in this consanguineous cohort, which suggested that it may develop sporadically in different populations. CONCLUSIONS:This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.

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Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

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Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

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| S-EPMC5244738 | biostudies-literature

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