KEGG   DISEASE: Tolchin-Le Caignec 症候群
エントリ  
H02769                      Disease                                
名称    
Tolchin-Le Caignec 症候群
概要    
Tolchin-Le Caignec syndrome (TOLCAS) is a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas. It has been reported that mutations in SOX6 cause this syndrome. SOX6 belongs to a family of SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02769  Tolchin-Le Caignec 症候群
病因遺伝子 
SOX6 [HSA:55553] [KO:K09269]
リンク   
ICD-11: LD90.Y
OMIM: 618971
文献    
PMID:32442410
  著者
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N, Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogne B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C
  タイトル
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
  雑誌
Am J Hum Genet 106:830-845 (2020)
DOI:10.1016/j.ajhg.2020.04.015
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