PMC9768213_01
Clinical symptoms. (A) Joint contracture can be seen in the finger and toe joints of the patient. (B) The patient has dry skin and hand and foot desquamation, which is the manifestation of ichthyosis. (C) The patient has a yellow skin stain all over the body, accompanied by icteric sclera.
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F1
Physical examination showed yellowing all over the body, accompanied by icteric sclera, contracture of the finger and toe joints, dry skin all over the body accompanied by incessant itching, and hand and foot desquamation, which is a manifestation of ichthyosis, as shown in Figure 1.
The whole exon gene sequencing showing two novel heterozygous mutations in VPSS33B gene. (A) The first mutation is c1081(exon14)C > T, NM_018668, p.Q361X,257, which originated from the patient's mother. (B) The second mutation is c.244(exon4)T > C, NM_018668, p.C82R, which originated from the patient's father.
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F2
T > C, NM_018668, p.C82R, which, based on ACMG guidelines, was determined to be a likely pathogenic mutation (PVS1 + PM2 + PM3 + PP3), inherited from her father (Figure 2). These two newly discovered gene mutations may be related to the mild ARC syndrome reported previously.