Fig. 1: Clinical and genetic features of the proband.
From: Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
Xanthomas seen on the a wrist, b Achilles tendon, and c knees of the 6-year-old proband. d Sanger sequences of the ABCG8 gene. A heterozygous nonsense variant, c.225G > A (p.Trp75*), was identified in the proband and her father (left panels, depicted by an arrow), whereas a heterozygous missense variant, c.1256_1257delTCinsAA (p.Ile419Lys), was observed in the proband, her mother, and her elder sister (right panels, depicted by arrows). Thus, these two variants were inherited in trans. e Homologs of the ABCG8 gene at the Ile419 residue are well conserved across multiple species (shown in bold letters).
