PMC10280004_01
PMC10280004_02
PMC10280004_03
The NGS reads of the trio, highlighting the de novo nature of the c.191A>G; pTyr64Cys variant.
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F1
The presence of the variant was confirmed in the proband by Sanger sequencing and excluded in both parents, indicating that the variant occurred de novo in a heterozygous state (Figure 1).
Timeline showcasing the course of the disease, establishing the diagnosis of Takenouchi-Kosaki syndrome and the multidisciplinary approach. Photographs show gastrostomy and abdominal wall infection (A), camptodactyly (B), syndactyly of toes (C), and distictive facial gestalt (D).
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F2
TKS. The summary of the clinical phenotypic features, course of the disease including gastroenterological problems, diagnostic procedures uncovering congenital anomalies and immunodeficiency, as well as implemented multidisciplinary care are displayed in Timeline (Figure 2).