KEGG   DISEASE: Lamb-Shaffer 症候群
エントリ  
H02156                                                             
名称    
Lamb-Shaffer 症候群;
12p12.1 microdeletion 症候群
概要    
Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.
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
    H02156  Lamb-Shaffer 症候群
病因遺伝子 
SOX5 [HSA:6660] [KO:K09269]
リンク   
ICD-11: LD44.C1
MeSH: D065886
OMIM: 616803
文献    
  著者
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG
  タイトル
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
  雑誌
Hum Mutat 33:728-40 (2012)
DOI:10.1002/humu.22037
文献    
  著者
Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N
  タイトル
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
  雑誌
Gene 655:65-70 (2018)
DOI:10.1016/j.gene.2018.02.049
文献    
  著者
Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A
  タイトル
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
  雑誌
Am J Med Genet A 167A:2548-54 (2015)
DOI:10.1002/ajmg.a.37221
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