PMC9094698_01
(A) The image shows that the proband was short in stature. (B) The graph shows that the patient had facial dysmorphism. (C) Pedigrees of the family diagnosed with trichohepatoenteric syndrome. (D) Sanger sequencing chromatograms of DNA samples from the proband and her mother and younger brother showing the autosomal recessive mutation, c 12_13del in SKIV2L. Arrows indicate the position of the mutation. (E) Amino acid sequences of wild-type and mutated SKIV2L. The mutation of SKIV2L results in a truncated protein composed of 40 amino acids, compared with the wild-type SKIV2L, which is composed of 1246 amino acids.
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F1
She was the first child of consanguineous parents (Figure 1C), and has no significant family history. We observed certain malformations, such as woolly hair, broad nasal root and prominent forehead, in the patient, and she had mild exophthalmos (Figures 1A,B).