A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report

Harry Pachajoa; Sebastian Giraldo-Ocampo

doi:10.2147/ORR.S385146

A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report

Orthop Res Rev. 2022 Nov 28:14:453-458. doi: 10.2147/ORR.S385146. eCollection 2022.

Authors

Harry Pachajoa^{1

2}, Sebastian Giraldo-Ocampo³

Affiliations

¹ Genetics Division, Fundación Valle del Lili, Cali, Colombia.
² Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.
³ Departamento de Microbiología, Universidad del Valle, Cali, Colombia.

Abstract

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: IFITM5; brittle bone disease; case report; genetic skeletal disorders; osteogenesis imperfecta.

Publication types

Case Reports