CEP85Lに関連したリセンセファリーの概要と拡大
Isabell Schumann1, Rami Abou Jamra2, Robin-Tobias Jauss2
1Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Centre for Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany.
CEP85Lの遺伝子変異は 神経発達障害であるリセンセファリーを引き起こす. この研究は遺伝子型と現象型の相関を明らかにし,この状態の遺伝子診断とカウンセリングを助けます.
科学分野:
- 神経科学
- 遺伝学
- 発達生物学
背景:
- リスエンセファリー (lisencephaly,LIS) は神経発達の障害 (NDD) で,神経細胞の異動が原因で,脳の表面が滑らかで,皮質の厚さが異常である.
- CEP85L遺伝子の変異は後部優勢のLISと関連しているが,包括的な遺伝子型-現象型相関と診断基準は不明である.
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