A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome
| Autor: | Hiroyuki Moriuchi, Hiroyuki Nunoi, Midori Motokawa, Kanako Morifuji, Tatsuro Kondoh, Akiko Nakatomi, Hirotake Sawada, Sumito Dateki, Koh-ichiro Yoshiura, Toyoki Nishimura, Tadashi Matsumoto, Satoshi Watanabe |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Blood Platelets
0301 basic medicine Takenouchi-Kosaki syndrome macromolecular substances 03 medical and health sciences Camptodactyly 0302 clinical medicine Exome Sequencing Genetics Humans Medicine Abnormalities Multiple Allele Congenital Malformation Syndrome cdc42 GTP-Binding Protein Alleles Genetics (clinical) Exome sequencing Immunodeficiency business.industry Brain Infant congenital hypothyroidism CDC42 medicine.disease Magnetic Resonance Imaging Phenotype Congenital hypothyroidism Radiography 030104 developmental biology Amino Acid Substitution 030220 oncology & carcinogenesis Mutation Female Sensorineural hearing loss medicine.symptom business immunodeficiency Biomarkers |
| Zdroj: | Journal of Human Genetics. 63(3):387-390 |
| ISSN: | 1434-5161 |
| Popis: | 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. Journal of Human Genetics, 63(3), pp.387-390; 2018 |
| Databáze: | OpenAIRE |
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