Amish, Mennonite, and Hutterite
Genetic Disorder Database

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly

Disorder
OMIM #: #236500  (Click to access OMIM database)
Disorder: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 
Also known as: MARCH
MARCH syndrome 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite  
Gene: CEP55
Base Change: C>A, at nucleotide 1274
Amino Acid Change: ser 425 --> term
Last updated: 2019-04-24 

References
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. (2017) A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet Jul;54(7):490-501.
PubMed ID: 28264986 
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. (2019) An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet Apr;27(4):657-662.
PubMed ID: 30622327 

Back