KEGG   DISEASE: Verheij 症候群
エントリ  
H01800                                                             
名称    
Verheij 症候群
概要    
Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.
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
  遺伝子変異を除く染色体異常
   LD44  常染色体の欠失
    H01800  Verheij 症候群
病因遺伝子 
PUF60 [HSA:22827] [KO:K12838]
リンク   
ICD-11: LD44.80
OMIM: 615583
文献    
PMID:19464398
  著者
Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM
  タイトル
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
  雑誌
Eur J Med Genet 52:353-7 (2009)
DOI:10.1016/j.ejmg.2009.05.006
文献    
PMID:27804958
  著者
El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Riviere JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hancarova M, Havlovicova M, Prchalova D, Sedlacek Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L
  タイトル
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
  雑誌
Eur J Hum Genet 25:43-51 (2016)
DOI:10.1038/ejhg.2016.133
文献    
PMID:28327570
  著者
Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF
  タイトル
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
  雑誌
Eur J Hum Genet 25:552-559 (2017)
DOI:10.1038/ejhg.2017.27
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