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珍しいグルコシルセラミダゼ (GBA) 変異の暴露: p.Ser276Phe 置換によるゴーシャー病

Naveen Kumar¹, Prasad Dange², Amrapali Samadder¹

¹Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.

|February 16, 2026

まとめ

ゴッシャー病 (Gaucher disease,GD) は,遺伝的な疾患である. この研究では,希少なGBA1遺伝子変種であるp.Ser276Pheが子供に神経疾患のGDタイプ3を引き起こし,疾患の多様性を強調しています.

科学分野:

遺伝学遺伝学とは
神経学神経学とは
バイオケミストリーバイオケミストリー

背景:

ゴッシャー病 (Gaucher disease,GD) は,オートソーマル・リセッシブ・リソソーマル貯蔵障害である.
それは,GBA1遺伝子の病原性変異から生じ,グルコセレブロシダゼをコードする.
神経病性GD (タイプ3) は,進行する神経学的症状を呈する.

研究の目的:

珍しいGBA1変種 (p.Ser276Phe) を有する子供における神経病性GDタイプ3の症例を記述する.
ゴーシュ病の表型的変異性と臨床的発現を強調する.

主な方法:

GDの疑いのある4歳の少女の臨床プレゼンテーションと検査.
病理学的検査のための骨髄生検.
GBA1遺伝子の変異を特定するための全エクソーム配列決定.

主要な成果:

GBA1遺伝子のホモジゴスミッセンスの変種であるp.Ser276Pheが特定されました.
患者は進行性神経学的症状,スプレノメガリー,認知機能低下を示した.
レベチラセタムは,神経学的症状の部分的な改善をもたらしました.

結論:

p.Ser276Phe変種は,ゴッシャー病の珍しい原因である.
このケースは,神経病性GDにおける広範なフェノタイプの変動性を強調しています.
GBA1の遺伝的変異は,さまざまな臨床表現に寄与する.

キーワード:

骨髄アスピレーションと生検による生検です.3型ガッシャー病はガッシャー病3型ガッシャー病です.GBA遺伝子変異によるGBA遺伝子変異リゾソーム性貯蔵病は,リゾソーム性貯蔵病である.スプレノメガリー症候群

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