# IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report

## TL;DR

A 3-month-old girl with bone fractures and deformities was diagnosed with a rare form of osteogenesis imperfecta linked to the IFITM5 gene, with evidence of prenatal involvement.

## Contribution

This case is the first to report prenatal manifestations associated with the IFITM5 c.-14C>T variant in osteogenesis imperfecta.

## Key findings

- The patient exhibited progressively deforming OI traits consistent with IFITM5-related disease.
- The c.-14C>T variant was identified, with suspected prenatal bone manifestations.
- Prenatal involvement had not been previously reported for this IFITM5 variant.

## Abstract

Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes COL1A1 and COL1A2, other genes such as IFITM5 have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity. X-rays revealed evidence of osteopenia and previous fractures in the arms, clavicle, ribs, and left limb, alongside prenatal bone deformities detected by ultrasound. Initial clinical evaluation suggested progressively deforming (Sillence's type III) osteogenesis imperfecta (OI). Molecular testing led to the diagnosis of IFITM5-related OI, identifying the c.-14C>T (rs587776916) variant. Although this variant has been previously reported in patients with IFITM5-related OI, prenatal involvement had not been associated with this variant.

•We observed progressively deforming OI traits in a patient with IFITM5-related OI.•We identified the c.-14C>T variant, suspecting prenatal manifestations.•Prenatal manifestations of the c.-14C>T variant have not been previously reported.

We observed progressively deforming OI traits in a patient with IFITM5-related OI.

We identified the c.-14C>T variant, suspecting prenatal manifestations.

Prenatal manifestations of the c.-14C>T variant have not been previously reported.