학술논문
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report
Document Type
article
Author
Source
Orthopedic Research and Reviews, Vol Volume 14, Pp 453-458 (2022)
Subject
Language
English
ISSN
1179-1462
Abstract
Harry Pachajoa,1,2 Sebastian Giraldo-Ocampo3 1Genetics Division, Fundación Valle del Lili, Cali, Colombia; 2Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia; 3Departamento de Microbiología, Universidad del Valle, Cali, ColombiaCorrespondence: Harry Pachajoa, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Calle 18 No. 122-135 Pance, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders, with a prevalence of 1 in 15,000– 20,000 births. OI type V has been described in approximately 150 cases and all patients carry the variant (c.-14C> T) in the IFITM5 gene. However, two other variants, p.S40L and p.N48S have been reported in this gene, leading to clinical phenotypes different from OI type V. Here we described a patient with multiple bone fractures, scoliosis, skull alteration (plagiocephaly), bone deformation, bone rickets, and intramedullary epithelioid osteosarcoma that bears the recently reported heterozygous variant c.143A>G (p.N48S) in the IFITM5 gene. This case supports the pathogenicity of this new variant in the IFITM5 gene and adds information regarding its clinical phenotype.Keywords: genetic skeletal disorders, IFITM5, osteogenesis imperfecta, brittle bone disease, case report