G328E変異と指の縮小異常による非典型性フィブロディスプラシア・プログレッシバ: 2件の症例報告
Vrisha Madhuri1,2,3, Agnes Selina1,2, Madhavi Kandagaddala4
1Department of Paediatric Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, India.
JBJS case connector
|September 5, 2025
まとめ
繊維性骨格形成症 (FOP) は非典型的に指の重度の縮小を示します. これらの稀なFOP症例の診断には ACVR1遺伝子の分析が不可欠です
科学分野:
- 遺伝学
- 整形外科
- 珍しい 病気
背景:
- Fibrodysplasia ossificans progressiva (FOP) は珍しい遺伝的疾患である.
- 骨格の変形,特に足の大きな指の変形を引き起こします.
- 典型的な遺伝的変異はc.617G>A (p.Arg206His) である.
研究 の 目的:
- FOPの異常症例を報告する
- FOPの遺伝的根拠を調査する
- 動きが制限された患者や指の異常を考慮する重要性を強調する.
主な方法:
- FOPの患者の臨床検査
- ACVR1遺伝子の分子遺伝分析
- 非典型的FOPの患者2人のケーススタディ
主要な成果:
- 2つの非典型のFOP症例が特定されました.
- これらの症例では,指の重度の縮小が示されました.
- 新しいACVR1遺伝子変異体であるc.983G>A (p.Gly328Glu) は,これらの非典型的表現と関連していました.
結論:
- FOPは,関節/脊椎の制限と指の縮小を有する患者に考慮されるべきである.
- FOPの早期診断には 臨床的および分子遺伝的分析が不可欠です
- 病気 の 進行 を 遅らせる 予防 策 を 取る こと が でき ます.
さらに関連する動画
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.9K
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
8.0K
関連する概念動画
03:14Notch Signaling Pathway
4.4K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.4K
01:09Changes in the Appendicular Skeleton with Age
2.2K
The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
2.2K