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

ABSTRACT:

Background

Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows some clinical overlap to Farber disease (FD), a recessive lysosomal storage disorder.

Results

We here present the largest cohort of independent, genetically confirmed HFS cases reported to date: in 19 unrelated index patients, we identified ten distinct homozygous ANTXR2 mutations, three of which are novel frame-shift variants. The associated clinical data are consistent with the previous hypothesis of non-truncating variants in the terminal exons 13-17 to confer rather mild phenotypes. T

SUBMITTER: Cozma C 

PROVIDER: S-EPMC6712857 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature