Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Peter J ShepardBruce A BarshopMatthias R BaumgartnerJohn-Bjarne HansenKristen JepsenErin N SmithKelly A FrazerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.Genet Med 17 8, 660-667.