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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

Authors
  • Motokawa, Midori1
  • Watanabe, Satoshi1
  • Nakatomi, Akiko1
  • Kondoh, Tatsuro2
  • Matsumoto, Tadashi2
  • Morifuji, Kanako3
  • Sawada, Hirotake4
  • Nishimura, Toyoki4
  • Nunoi, Hiroyuki4
  • Yoshiura, Koh-ichiro5
  • Moriuchi, Hiroyuki1
  • Dateki, Sumito1
  • 1 Nagasaki University Graduate School of Biomedical Sciences, Department of Pediatrics, Nagasaki, Japan , Nagasaki (Japan)
  • 2 Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan , Isahaya (Japan)
  • 3 Nagasaki University Graduate School of Biomedical Sciences, Department of Nursing, Nagasaki, Japan , Nagasaki (Japan)
  • 4 Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Department of Reproductive and Developmental Medicine, Miyazaki, Japan , Miyazaki (Japan)
  • 5 Nagasaki University Graduate School of Biomedical Sciences, Department of Human Genetics, Nagasaki, Japan , Nagasaki (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Jan 15, 2018
Volume
63
Issue
3
Pages
387–390
Identifiers
DOI: 10.1038/s10038-017-0396-5
Source
Springer Nature
License
Yellow

Abstract

Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mutation (p.Tyr64Cys) in the CDC42 gene, which encodes a key small GTP-binding protein of the Rho-subfamily, was identified in two unrelated patients with TKS. We herein report a third patient with TKS who had the same heterozygous CDC42 mutation. The phenotype of the patient was very similar to those of the two previously reported patients with TKS; however, she also demonstrated novel clinical manifestations, such as congenital hypothyroidism and immunological disturbance. Thus, despite the heterozygous mutation of CDC42 (p.Tyr64Cys) likely being a hot-spot mutation for TKS, its phenotype may be variable. Further studies and the accumulation of patients with CDC42 mutations are needed to clarify the phenotype in patients with TKS and the pathophysiological roles of the CDC42 mutation.

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