KEGG   DISEASE: Valence-Farazi 小脳失調症候群
エントリ  
H03016                                                             
名称    
Valence-Farazi 小脳失調症候群
概要    
Valence-Farazi cerebellar ataxia syndrome (VAFCAS) is a novel syndrome characterized by neurodevelopmental delay and ataxia. Mutations in SKOR2 gene linked to this syndrome have been identified. SKOR2 is a transcriptional repressor expressed in central nervous system tissues, mainly in the Purkinje cells (PCs). This is essential for the proper migration, development, and differentiation of PCs at embryonic stages.
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
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H03016  Valence-Farazi 小脳失調症候群
病因遺伝子 
SKOR2 [HSA:652991] [KO:K28746]
リンク   
ICD-11: LD20.0Y
OMIM: 621386
文献    
PMID:40890458
  著者
Farazi Fard MA, Tabatabaei Z, Ajam-Hosseini M, Nikuei P, Gila F, Parvini F, Jamali P
  タイトル
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two  Iranian families.
  雑誌
J Hum Genet 10.1038/s10038-025-01399-x (2025)
DOI:10.1038/s10038-025-01399-x
文献    
PMID:29997391
  著者
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L
  タイトル
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early  infantile epileptic encephalopathies.
  雑誌
Genet Med 21:553-563 (2019)
DOI:10.1038/s41436-018-0089-2
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