A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Patrick FroskHeleen H ArtsJulien PhilippeCarter S GunnEmma L BrownBernard ChodirkerLouise SimardJacek MajewskiSomayyeh FahiminiyaChad RussellYangfan P Liunull nullnull nullRobert HegeleNicholas KatsanisConrad GoerzMarc R Del BigioErica E Davis

Published in: Journal of medical genetics (2017)

CEP55 loss of function mutations likely underlie MARCH, a novel multiple congenital anomaly syndrome. This association expands the involvement of centrosomal proteins in human genetic disorders by highlighting a role in midbody function.

Keyphrases

endothelial cells
case report
induced pluripotent stem cells
gene expression
dna methylation
copy number
cerebral ischemia