Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. Issue 1 (December 2017)

• Record Type: Journal Article
• Authors: Haidar, Zahraa; Temanni, Ramzi; Chouery, Eliane; Jithesh, Puthen; Liu, Wei; Al-Ali, Rashid; Wang, Ena; Marincola, Francesco; Jalkh, Nadine; Haddad, Soha; Haidar, Wassim; Chouchane, Lotfi; Mégarbané, André
• Is Part Of: BMC genetics. Volume 18:Issue 1(2017)
• Page Start: 1
• Page End: 13
• Publication Date: 2017-12
• Subjects: Juvenile hyaline fibromatosis -- Infantile systemic hyalinosis -- Hyaline fibromatosis syndrome -- Whole genome sequencing -- Anthrax toxin receptor 2 gene; Genetics -- Periodicals; 576.505
• DOI: 10.1186/s12863-017-0471-0
• Languages: English
• ISSNs: 1471-2156

Abstract

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 inANTXR2 (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.