Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.
Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A
タイトル
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
