ABCG5 and sitosterolemia: Both the sitosterolemia patient with cerebral impairment and her younger sister exhibited a combination of two heterozygous variants identified in ABCG5. These variants included the previously reported nonsense variants NM_022436: c.751 C > T (p.Q251X) in exon 6 and NM_022436: c.1336 C > T (p.R446X) in exon 10.