Art

J-GLOBAL ID：201802283259842574   Reference number：18A0121105

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9

神経発生的遅延に関連したSaethre-Chotzen症候群患者において同定されたTWIST1近傍の隣接遺伝子欠失:HDAC9の可能な寄与

Author (3)： Shimbo Hiroko (Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Oyoshi Tatsuki (Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Kurosawa Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
Material： Congenital Anomalies (Web)  (Congenit Anom (Web))
Volume： 58  Issue： 1  Page： 33-35  Publication year： 2018 
JST Material Number： U0506A  ISSN： 1741-4520  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： abnormality ,...
Semi thesaurus term： Developmental delay

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A0121105&from=J-GLOBAL&jstjournalNo=U0506A") }}

Author keywords (5)： 7p21 deletion ,  Craniosynostosis ,  HDAC9 ,  Saethre-Chotzen syndrome ,  TWIST1

JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Clinical neurology in general  (GN01030H) ,  Clinical gynecology and obstetrics in general  (GS01030W) ,  Genetic variation  (EC01030Y)

Reference (11)：

• Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D. 2011. Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 54:256-261.
• Kress W, Schropp C, Lieb G et al. 2006. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 14:39-48.
• Howard TD, Paznekas WA, Green ED et al. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41.
• Johnson D, Horsley SW, Moloney DM et al. 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1282-1293.
• Paznekas WA, Cunningham ML, Howard TD et al. 1998. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 62:1370-1380.

Terms in the title (8)： 神経発生 ,  遅延 ,  Saethre-Chotzen症候群 ,  患者 ,  同定 ,  Twist1 ,  近傍 ,  遺伝子欠失