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.
雑誌名
Journal of Human Genetics
巻
63
号
3
ページ
387 - 390
発行年
2018-01-15
出版者
Springer Nature
ISSN
14345161
EISSN
1435232X
DOI
10.1038/s10038-017-0396-5
権利
c 2018, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
著者版フラグ
author
引用
Journal of Human Genetics, 63(3), pp.387-390; 2018