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： *Saethre-Chotzen syndrome ,...

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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 ,  症候群 ,  患者 ,  同定 ,  Twist1 ,  近傍 ,  遺伝子欠失