“…In an effort to identify genes with the strongest potential to be involved in the development of GSD by a CNV-related mechanism, we highlight 23 genes involved in lipid metabolic process, which are expressed in the small intestine and exclusively affected by CNV in cases. Direct functional links between the candidate genes and the etiology of GSD is available for: the lipid transporter ATPase phospholipid transporting 8B1, (ATP8B1) gene [28], the RB transcriptional corepressor 1, (RB1) gene [37], the hepatocyte nuclear factor 1α (HNF1A) gene [38], the bile salt transporter gene sulfotransferase family 2 A member 1, (SULT2A1) gene [10], and the Apolipoprotein L1 and L2 (APOL1 and APOL2) involved in lipid transport. In addition, we note that the 23 candidate genes were enriched with 7 genes extremely intolerant to loss-of-function genetic variation (i.e., ALAS1, HNF1A, LYN, OCRL, PDHA1, RB1, and TBL1X; hypergeometric test p-value = 0.033) and variants within these genes are rarely found in the general population [39].…”