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フェラン・マクダーミッド症候群の遺伝子型は,発達構造の障害のレベルが異なるにもかかわらず,同様の変化率を示す

Tess Levy1, Cristan Farmer1, Siddharth Srivastava1

  • 1Tess Levy, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Cristan Farmer, National Institute of Mental Health, National Institutes of Health; Siddharth Srivastava, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Kristina Johnson, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School and Northeastern University; Jadyn Trayvick, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Camille Brune, Rush University Medical Center; Alexandra Massa and Hailey Silver, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Paige M. Siper, Seaver Autism Center for Research and Treatment and The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai; Jessica Zweifach and Danielle Halpern, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Jennifer H. Foss-Feig, Seaver Autism Center for Research and Treatment, The Mindich Child Health and Development Institute, and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai; Jonathan A. Bernstein, Stanford University School of Medicine; Elizabeth Berry-Kravis, Rush University Medical Center; Craig M. Powell, Heersink School of Medicine and Civitan International Research Center, University of Alabama at Birmingham; Mustafa Sahin, Rosamund Stone Zander Translational Neuroscience Center and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School; Latha Valluripalli Soorya, Rush University Medical Center; Audrey Thurm, National Institute of Mental Health, National Institutes of Health; Joseph D. Buxbaum, Seaver Autism Center for Research and Treatment, The Mindich Child Health and Development Institute, and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai; and Alexander Kolevzon, Seaver Autism Center for Research and Treatment, The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, on behalf of the Developmental Synaptopathies Consortium.

American journal on intellectual and developmental disabilities
|August 26, 2025
PubMed
まとめ

ゲノタイプはフェラン-マクダーミッド症候群 (PMS) の重症度に影響しますが, 時間の経過とともに発達と行動の変化は遺伝グループ間で類似しています. これは,特定の遺伝的変異に関係なく,PMSを持つ個人に合わせた支援を提案しています.

キーワード:
22q13 についてフェラン・マクダーミッド症候群SHANK3 についてゲノタイプ-フェノタイプ関連自然史

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