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与IFITM5相关的 (类型V) 骨质变生不完美,有围产期参与的证据:一个病例报告

Valentina Martínez-Montoya^1,2, Miguel Angel Fonseca-Sánchez¹, Gerardo Fabian-Morales³

¹Medical Genetics Service, NanoLab Next Generation Diagnostics, Mexico City, Mexico.

|April 29, 2024

概括

骨质变生不完美 (OI) 是一种罕见的遗传骨疾病. 这项研究确定了一种与IFITM5基因变异相关的新产前表现,扩大了我们对这种罕见疾病的理解.

科学领域:

遗传学是一个遗传学.
儿科儿科儿科
整形外科整形外科整形外科

背景情况:

骨质变生不完美 (OI) 是一种罕见的遗传性疾病,导致骨脆弱和骨折.
大多数OI病例源于COL1A1或COL1A2基因的突变,但IFITM5基因变异占病例的多达5%.
在临床上,OI被分为几种类型,第三种类型表明骨脆弱性逐渐变形.

研究的目的:

报告一个在婴儿期诊断的骨质发育不完善 (OI) 病例.
为了研究OI在患有严重骨变形的患者中的遗传基础.
描述与特定的IFITM5基因变异相关的以前未报告的产前症状.

主要方法:

对一个3个月大的女婴进行临床评估,该婴儿患有大腿骨折和四肢形.
放射性评估包括X射线,以确定骨质疏松症和以前的骨折.
分子遗传测试用于识别致病基因变异.
关于IFITM5变体和OI表型的现有文献的审查.

主要成果:

该患者出现了多重骨折,骨质疏松症和产前骨变形,与严重的OI一致.
分子测试在IFITM5基因中发现了c.-14C>T (rs587776916) 变异.
这种特定的IFITM5变异,以前与OI相关,在这种情况下与产前骨变形有关,这是一个新的发现.

结论:

在IFITM5基因中的c.-14C>T变异可以在Osteogenesis Imperfecta中引起显著的产前骨变形.
这一案例扩大了已知的IFITM5相关OI的表型谱.
早期遗传诊断对于管理OI和了解其多样化的表现至关重要.

关键词:

如果IFITM5是IFITM5,那么它是什么?骨质发生不完美症 (osteogenesis imperfecta) 是一个不完美的疾病.产前参与产前参与

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