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

Overview

abstract

  • BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions. METHODS: We describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents. RESULTS: A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted. CONCLUSIONS: The main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

publication date

  • January 19, 2017

Research

keywords

  • Amino Acid Substitution
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Hyaline Fibromatosis Syndrome
  • Hyalinosis, Systemic
  • Receptors, Peptide
  • Sequence Analysis, DNA

Identity

PubMed Central ID

  • PMC5244738

Scopus Document Identifier

  • 85009875927

Digital Object Identifier (DOI)

  • 10.1186/s12863-017-0471-0

PubMed ID

  • 28103792

Additional Document Info

volume

  • 18

issue

  • 1