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14 de mar. de 2019 · In conclusion, Takenouchi-Kosaki syndrome is a clinically recognizable human disease that is characterized by macrothrombocytopenia, intellectual disability, sensorineural hearing loss with ...
Optic atrophy is present in over 20% of patients. Strabismus, primarily exotropia, is found in more than 70% and various extraocular muscle anomalies may be detectable. Usually the exotropia has a V-pattern with overaction of the inferior oblique muscles while the superior oblique is weak. Amblyopia occurs in nearly 20%.
7 de ago. de 2022 · Takenouchi-Kosaki syndrome is an extremely rare inherited disease caused by a heterozygous de novo mutation in the cell division cycle 42 ( CDC42) gene. Fewer than 20 cases have been reported in the literature since it was first identified in 2015. It is characterized by macrothrombocytopenia, developmental delay, dysmorphic facies, and deafness.
Takenouchi-Kosaki 综合征，又称巨血小板减少-淋巴水肿-发育延迟-面部畸形-掌趾屈曲综合症，与感觉神经性听力损失和自身免疫性溶血性贫血有关。与 Takenouchi-Kosaki 综合征相关的重要基因是 CDC42 (细胞分裂周期 42)。相关组织包括皮肤和大脑，相关表型为异常面部形状和脑成像异常。
Takenouchi-Kosaki Syndrome (TKS) is a congenital multi-organ disorder caused by the de novo missense mutation c.191A > G p. Tyr64Cys (Y64C) in the CDC42 gene. We previously elucidated the functional abnormalities and thrombopoietic effects of Y64C using HEK293 and MEG01 cells. In the present study, we used iPSCs derived from TKS patients to ...
These features are likely present throughout life. There may also be fluid on the heart (pericardial effusion), in the abdomen (ascites), and around the lungs (hydrothorax). Hearing loss and heart malformations may be present. Intellectual disabilities may be severe. Facial features consist of a flat midface and droopy eyelids.
14 de mar. de 2019 · In conclusion, Takenouchi-Kosaki syndrome is a clinically recognizable human disease that is characterized by macrothrombocytopenia, intellectual disability, sensorineural hearing loss with structural brain abnormalities, camptodactyly, and frequent infections as well as a de novo heterozygous single amino acid substitution change in CDC42, i.e., p.Tyr64Cys.
