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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-01-15

AUTHORS

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki

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. More... »

PAGES

387-390

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-017-0396-5

DOI

http://dx.doi.org/10.1038/s10038-017-0396-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100403204

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29335451


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