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J-GLOBAL ID：201902278822251560   Reference number：19A0148562

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Myh3の新規な短縮型変異は扁平頭蓋底を伴う脊柱後脛骨関節症症候群を引き起こす

Author (8)： TAKAGI Masaki (Keio Univ. School of Medicine, Tokyo, JPN) ,  TAKAGI Masaki (Kojiya Child Clinic, Tokyo, JPN) ,  SHIMOMURA Satoshi (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  FUKUZAWA Ryuji (International Univ. Health and Welfare, Chiba, JPN) ,  NARUMI Satoshi (Keio Univ. School of Medicine, Tokyo, JPN) ,  NARUMI Satoshi (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  NISHIMURA Gen (Saitama Medical Univ. Hospital, Saitama, JPN) ,  HASEGAWA Tomonobu (Keio Univ. School of Medicine, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 63  Issue： 12  Page： 1277-1281  Publication year： Dec. 2018 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *MYH3遺伝子 ,...

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JST classification (3)： Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Musculoskeletal diseases  (GG03000T)

Reference (13)：

• Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405-10.
• Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, et al. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet A. 2008;146A:1593-1597.
• Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, et al. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Eur J Hum Genet. 2016;24:1746-51.
• Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, et al. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep. 2017;7:41803.
• Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, et al. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A. 2017;173:1071-6.

Terms in the title (5)： 変異 ,  扁平頭蓋底 ,  脊柱 ,  骨関節症 ,  症候群