PMC9811192_01
Appearance photos of the patient. (A) The patient had a special face like thickened inner canthus and rough skin in the face. (B) The patient's finger was slender and the skin was aging. (C) The patient appeared increased range of motion of joints in the hands, with a dorsal extension of about 110 .
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F1
The physical examination at admission showed motor retardation, short stature, inability to look up at the age of 4 months, a special face with a thickened inner canthus, rough skin on the face, and a slightly thicker tongue coating (Figure 1A). At the same time, the patient's fingers were slender and his skin was aging (Figure 1B). In addition, he also appeared to have ligament laxity and an increased range of motion of the joints in his hands, with a dorsal extension of approximately 110  (Figure 1C).
X-ray of the patient showed widened right hip joint space (A), spinal deformity, dislocation (B) and slight kyphosis (C).
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F2
An x-ray examination found spinal deformity, dislocation, slight kyphosis, and a widened right hip joint space, which were typical manifestations of skeletal dysplasia and similar to the excessive joint extension as mentioned above (Figure 2).
Whole exon gene sequencing showed that there were two suspicious mutation sites in the B3GALT6 gene: c.942G>C(p.(W314C)) (A) and c.808G>A(p.(G270S)) (B).
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F3
Whole exon gene sequencing showed that there were two heterozygous mutation sites in the B3GALT6 gene: c.942G>C(p.(W314C)) (Figure 3A) and c.808G>A(p.(G270S)) (Figure 3B).
The gene sequencing gold standard sanger method was used to verify the mutation, and it was found that the child showed mutation at the loci of the suspected mutation.
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F4
Among them, in the c.808G > A, the father had a mutant type, and the mother had a wild type; in the c.942G > C, the father had a wild type, and the mother had a mutant type (Figure 4).