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

BMC Genetics

Research Article

Puthen Jithesh¹  Ramzi Temanni¹  Rashid Al-Ali¹  Wassim Haidar²  Soha Haddad³  Ena Wang⁴  Wei Liu⁴  André Mégarbané⁵  Lotfi Chouchane⁶  Francesco M Marincola⁷  Nadine Jalkh⁸  Eliane Chouery⁸  Zahraa Haidar⁸ 

[1] Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar;Department of General surgery, Dar Al Amal University Hospital-Baalbeck, Baalbeck, Lebanon;Department of Radiology, Hotel Dieu de France University hospital–Beirut, Beirut, Lebanon;Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar;Institut Jérôme Lejeune, 37, rue des Volontaires, 75015, Paris, France;Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Doha, Qatar;Research office, Sidra Medical & Research Center, Doha, Qatar;Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon;

关键词: Juvenile hyaline fibromatosis;    Infantile systemic hyalinosis;    Hyaline fibromatosis syndrome;    Whole genome sequencing;    Anthrax toxin receptor 2 gene;   

DOI  :  10.1186/s12863-017-0471-0

 received in 2016-10-06, accepted in 2017-01-10,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundHyaline 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.MethodsWe 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.ResultsA mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.ConclusionsThe 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.

【 授权许可】

CC BY   
© The Author(s). 2017