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

IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM

Bone Reports Pub Date : 2024-04-17 DOI:10.1016/j.bonr.2024.101766

Valentina Martínez-Montoya , Miguel Angel Fonseca-Sánchez , Gerardo Fabian-Morales , Ramiro Vega-Gamas , Gloria Eugenia Queipo-García , Luis Felipe León-Madero , Luz María Sánchez-Sánchez

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引用次数: 0

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.

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有围产期受累证据的 IFITM5 相关（V 型）成骨不全症：病例报告

成骨不全症（OI）是一种罕见的遗传性疾病，其特点是骨质脆弱和经常骨折。虽然大多数病例是由于胶原编码基因 COL1A1 和 COL1A2 的变异所致，但 IFITM5 等其他基因也与该病有关，占病例的 5%。在此，我们报告了一例 3 个月大的女性股骨骨折和肢体畸形病例。X 射线检查显示患者有骨质疏松的迹象，手臂、锁骨、肋骨和左侧肢体曾发生骨折，超声波检查还发现产前骨畸形。初步临床评估显示，患者的骨骼发育不全（OI）呈进行性畸形（Sillence's III 型）。通过分子检测，确诊为与 IFITM5 相关的 OI，并发现了 c.-14C>T（rs587776916）变异。虽然以前曾有报道称 IFITM5 相关 OI 患者存在这种变异，但产前受累与这种变异并无关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Bone Reports Medicine-Orthopedics and Sports Medicine

CiteScore

4.30

自引率

4.00%

发文量

444

审稿时长

57 days

期刊介绍： Bone Reports is an interdisciplinary forum for the rapid publication of Original Research Articles and Case Reports across basic, translational and clinical aspects of bone and mineral metabolism. The journal publishes papers that are scientifically sound, with the peer review process focused principally on verifying sound methodologies, and correct data analysis and interpretation. We welcome studies either replicating or failing to replicate a previous study, and null findings. We fulfil a critical and current need to enhance research by publishing reproducibility studies and null findings.