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Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema.
1 de dic. de 2023 · Takenouchi-Kosaki Syndrome (TKS), a rare genetic disorder caused by a de novo mutation in the CDC42 gene is modeled using patient-derived iPSCs. •. Macrothrombocytopenia, the hallmark TKS phenotype is recapitulated by TKS-iPSCs using a modified platelet producing protocol. •. This study emphasizes the role of Cdc42 in megakaryocyte and ...
Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive overgrowth syndrome, named the Kosaki overgrowth syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been report …
18 de may. de 2020 · CDC42 is a Ras-related GTP-binding protein that plays roles in a variety of biologic activities including cell adhesion, migration, polarization, proliferation, and malignant transformation. Germline pathogenic heterozygous mutations in CDC42 lead to Takenouchi-Kosaki syndrome, presenting with neurodevelopmental delay, distinctive facial ...
12 de mar. de 2020 · In contrast to patients with the classical Takenouchi–Kosaki syndrome and similarly to our patient, systemic autoinflammatory disease and development of HLH were predominating manifestations in four patients with three distinct C-terminal de novo variants (p.C188Y, p.R186C, p. * 192C * 24) in CDC42 reported by Gernez et al. .
CDC42阻害剤による武内・小崎症候群の治療法の開発研究班. CDC42遺伝子異常症、Takenouchi-Kosaki症候群とは、巨大血小板性血小板減少症、知的障害、特徴的顔貌、感音性難聴、屈指、リンパ浮腫、反復性の感染症、甲状腺機能低下症などを特徴とする先天異常 ...
Kosaki-Großwuchssyndrom. Das Kosaki-Großwuchssyndrom ist eine sehr seltenes angeborenes Großwuchssyndrom mit den Hauptmerkmalen Großwuchs, Gesichtsdysmorphie, Überdehnbarkeit der Haut und Leukenzephalopathie.. Synonyme sind: Skelettaler Großwuchs-kraniofaziale Dysmorphien-hyperelastische Haut-Läsionen der weissen Substanz-Syndrom; englisch Kosaki overgrowth syndrome; KOGS
