ウィリアムズ症候群の非定型的な欠失が神経発達疾患のメカニズムを明らかにする
Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
Zhou J(1)(2), Zheng Y(3), Liang G(4), Xu X(5), Liu J(1), Chen S(2)(6), Ge T(1), Wen P(1)(6), Zhang Y(1), Liu X(7), Zhuang J(1)(2), Wu Y(8)(9)(10), Chen J(11)(12).
Author information:
(1)Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
(2)Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
(3)Department of Nutrition, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
(4)Department of Physical Therapy and Rehabilitation, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
(5)Department of Endocrinology, General Hospital of Central Theater Command, Wuhan, China.
(6)Research Department of Medical Sciences, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
(7)Division of Epidemiology, Guangdong Provincial People's Hospital and Cardiovascular Institute, Guangzhou, China.
(8)Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. edgar_wu@aliyun.com.
(9)Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. edgar_wu@aliyun.com.
(10)Department of Physical Therapy and Rehabilitation, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. edgar_wu@aliyun.com.
(11)Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. jimei_1965@outlook.com.
(12)Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. jimei_1965@outlook.com..
BMC Med Genomics. 2022 Apr 4;15(1):79. doi: 10.1186/s12920-022-01227-7.
ウィリアムズ症候群の特定の神経認知表現型に関連する遺伝子に関しては未だに議論の余地がある。本研究ではウィリアムズ症候群の患者111人から非定型的な欠失を有する9人の患者を特定した。これらの欠失には小さい欠失が7種、大きい欠失が2種含まれる。1人の患者はGTF2IとGTF2IRD1を含むウィリアムズ症候群責任領域の遠位領域の欠失を有していながら正常な神経発達を呈している。しかし、他の患者はこれらの遺伝子を維持しているにも関わらず神経発達異常を示す。定型的な欠失と非定型的な欠失を有する被験者の遺伝子型と表現型を比較し、これまでに発表された論文のデータと合わせて考えた結果、 BAZ1BとFZD9とSTX1Aの各遺伝子がウィリアムズ症候群患者の神経発達の重要な役割を果たすという仮説を提示する。
（２０２２年５月）
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