PMC8113616_01
Clinical symptoms of the patient. (A) Mild rashes on the skins of the face and legs. (B) Slightly longer T1 and T2 signals were observed in the frontotemporal white matter, and the volume of white matter was decreased. Ventricles were enlarged, and sulci were widened.
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F1
Her admission physical examinations showed clear consciousness, normal spirit and nutrition, normal head circumference, normal complexion, mild rashes, and no head deformity (Figure 1A). Median line was in the center, and there were no obvious abnormal flow vessels in the cranium (Figure 1B).
Novel TREX1 mutations and elevated type I IFN were found in the patient. New mutations of c.137 (exon2)_c.138 (exon2) insC (A) and c.292 (exon2)_c.293 (exon2) insA (B) in TREX1 gene of the patient were detected by Trio-based whole-exome sequencing. (C) Increased IFN-alpha and IFN-beta levels in the sera of the patient were detected by ELISA. Statistically significant differences are expressed as ***P < 0.001.
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F2
TREX1 gene of the child was mutated by c.137 (exon2)_c.138 (exon2) insC (Figure 2A) and c.292 (exon2)_c.293 (exon2) insA (Figure 2B). The mother TREX1 gene c.137 (exon2)_c.138 (exon2) insC was found (Figure 2A), but TREX1 gene c.292. (exon2)_C.293 (exon2) was normal (Figure 2B). The father TREX1 gene c.292 (exon2)_c.293 (exon2) insA mutation was observed (Figure 2B), whereas TREX1 gene c.137 (exon2)_c.138 (exon2) was normal (Figure 2A). The enzyme-linked immunosorbent assay (ELISA) results showed that the serum concentrations of IFN-alpha and IFN-beta were abnormally elevated in the patient (Figure 2C), consistent with the typical characteristics of AGS.