KEGG   DISEASE: Glass 症候群
エントリ  
H02146                                                             
名称    
Glass 症候群;
2q32-q33 欠失症候群
概要    
Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.
カテゴリ  
染色体異常
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  遺伝子変異を除く染色体異常
   LD44  常染色体の欠失
    H02146  Glass 症候群
病因遺伝子 
SATB2 [HSA:23314] [KO:K23226]
リンク   
ICD-11: LD44.20
MeSH: C567350
OMIM: 612313
文献    
PMID:2918541
  著者
Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E
  タイトル
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
  雑誌
J Med Genet 26:127-30 (1989)
DOI:10.1136/jmg.26.2.127
文献    
  著者
Zarate YA, Fish JL
  タイトル
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
  雑誌
Am J Med Genet A 173:327-337 (2017)
DOI:10.1002/ajmg.a.38022
文献    
  著者
Urquhart J, Black GC, Clayton-Smith J
  タイトル
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
  雑誌
Eur J Med Genet 52:454-7 (2009)
DOI:10.1016/j.ejmg.2009.06.003
文献    
  著者
Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR
  タイトル
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
  雑誌
Hum Mol Genet 23:2569-79 (2014)
DOI:10.1093/hmg/ddt647
文献    
  著者
Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V
  タイトル
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
  雑誌
Hum Mutat 28:732-8 (2007)
DOI:10.1002/humu.20515
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