KEGG   DISEASE: 家族性難治性吃音
エントリ  
H02897                                                             
名称    
家族性難治性吃音
概要    
Stuttering (STUTS) is a common neurodevelopmental speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. Stuttering has been shown to be highly heritable. Mutations in AP4E1 have been reported in individuals with persistent stuttering. AP4E1 encodes a subunit of the AP-4 complex, involved in protein sorting at the trans-Golgi network.
カテゴリ  
精神及び行動の障害
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A01  発達性発話または言語症
    H02897  家族性難治性吃音
病因遺伝子 
AP4E1 [HSA:23431] [KO:K12400]
リンク   
ICD-11: 6A01.1
MeSH: D013342
OMIM: 184450
文献    
PMID:26544806
  著者
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D
  タイトル
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
  雑誌
Am J Hum Genet 97:715-25 (2015)
DOI:10.1016/j.ajhg.2015.10.007
文献    
PMID:20944643
  著者
Fedyna A, Drayna D, Kang C
  タイトル
Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.
  雑誌
J Hum Genet 56:80-2 (2011)
DOI:10.1038/jhg.2010.125
LinkDB    

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