case_images: PMC10753791_01
case_images: Gene sequencing results of the patient and her relatives. (A) The patient has a mutation in the TNFRSF1A gene, with nucleotide G at position 251 replaced by A, resulting in the C55Y substitution. (B) The father of the patient has no variation in the TNFRSF1A gene. (C) The mother of the patient has a mutation in the TNFRSF1A gene. (D) The sister of the patient has a mutation in the TNFRSF1A gene. The arrow indicates the mutation site.
case_images: fped-11-1296487-g001.jpg
case_images: PMC10753791_01_fped-11-1296487-g001.jpg
case_images: F1
case_images: The heterozygous variant was found at the same location in the patient's mother and sister, while no variant was found at that location in the father (Figure 1).