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Article

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

Journal of human genetics - 1 Mar 2018

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

Abstract excerpt

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...

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PMID: 29335451
DOI: 10.1038/s10038-017-0396-5

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CDC42

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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.PMID 29335451Read ↗

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The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case reportSemantic proximity Read ↗

Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome.Semantic proximity Read ↗

The first CDC42 variant (p.Arg68Gln) associated with Takenouchi-Kosaki syndrome in Asia: a case report and literature reviewSemantic proximity Read ↗

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Aplasia cutis congenita in a CDC42-related developmental phenotype.Semantic proximity Read ↗

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys MutationSemantic proximity Read ↗

A New Patient with NOCARH Syndrome Due to CDC42 Defect.Semantic proximity Read ↗

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