The serum concentration of VA in ARM neonates was lower than that in control neonates (P < 0.0001), and RARα mRNA expression was lower in the rectum specimens from ARM patients than in the colon specimens from a stoma and the rectum specimens from controls (P < 0.05); there was no significant difference between the colon from a stoma and the rectum from controls.
Expression studies in mice suggest that NEUROD2 and RARA, which reside within the newly identified del17q12q21.2 region, are candidate genes for the formation of microcephaly and ARM.